2-Stage Ear Reconstruction – an Article Review

Updated 3/2017-- photos and all links (except to my own posts) removed as many no longer active. 

There is a nice article on a 2-stage ear reconstruction for microtia (full reference below) in the current issue (May/June 2011) of the Archives of Facial Plastic  Surgery journal.

I am in awe of the surgeons who can carve the 3-dimensional cartilage framework fabricated in the first stage.  This is not something I mastered but continue to read to learn (while referring this patients to others).

In the article, Yanyong Zhao, MD  and colleagues describe the 2-stage procedure they used to reconstruct the ears of 68 patients (ages ranged from 5 to 17 years).  The surgeries were done  between January 1, 2006, to December 31, 2008. Forty-eight patients were boys, and 20 were girls. Unilateral microtia was present in 66 patients and bilateral microtia was present in 2 patients.

The authors clearly describe the procedure and have added nice photos such as this one to make it even more clear (photo credit).

The first stage involves elevating the skin flap and retroauricular fascial flap in the mastoid area, then the cartilage framework is wrapped by the fascial flap from behind and covered by the skin flap from front.

In the second stage the crus, the tragus, and the conchal cavity are reconstructed. So almost all of the fine structures of ear are reconstructed.

Here is one of the photos which shows their results (photo credit)

The article is worth reading, especially for students and residents.  Even experienced surgeons may find it useful.

REFERENCE

Original Article A 2-Stage Ear Reconstruction for Microtia; Haiyue Jiang, Bo Pan, Yanyong Zhao, Lin Lin, Lei Liu, Hongxing Zhuang; Arch Facial Plast Surg. 2011;13(3):162-166; doi:10.1001/archfacial.2011.30

Shout Outs

Updated 3/2017-- photos and all links (except to my own posts) removed as many are no longer active and it was easier than checking each one.

John Mandrola, M.D., Dr John M, is the host for this week’s Grand Rounds! You can read this week’s edition here.

Hey all.
Welcome to another edition of Grand Rounds, a collection of writings from medical bloggers, the world-wide.
Here are this week's posts, collated into four chapters, with just a little commentary and a few selected images. ……….

……………………..

A really nice piece at EP Monthly by Dr. Greg Henry:  The ED as Political Safe Zone 

………..Now if you believe that the ED is that bastion of neutrality, free of all political bias, I have a bridge in lower Manhattan that heads to Brooklyn that I’d like to sell you. The reality is that politics are everywhere. The question is, how do we rein them in so that we can give out reasonably competent care without letting our innate prejudices control us? ………….

…………………………….

As Movin Meat said in his post: An Anticipated Relaunch

One of my favorite writers has returned to the blogosphere!  Intueri has relaunched as In White Ink -- The Unwritten Details!  The early posts are promising, as one would expect of a long-time medblogger, and the site design is lovely, as one would expect from the beautiful, minimalist design of the old site.

…….I've added it to my feed reader, and I'd recommend you do as well.

…………………….……

Kim, Emergiblog, is the host of the latest edition of Change of Shift (Vol 5, No 12)! You can find the schedule and the COS archives at Emergiblog. (photo credit)

Welcome to Change of Shift!

…….Now, let’s get started!

Editors Pick of the Week and Dedicated to Raise Blood Pressure Post: A story of a frequent flyer who needs the flights, presented by NPs Save Lives at The Nurse Practitioner’s Place: He’s Gotta Ticket To Ride and The NP Says It’s Okay posted at The Nurse Practitioner’s Place.

………………………….

From twitter comes a link to a very nice article

@Mtnmd RT @apjonas Sedentary Physiology Part 1 – Not Just The Lack of Physical Activity http://bit.ly/hlZrxq VERY interesting

The article is written by Travis Saunders who is a PhD student researching the relationship between sedentary time and chronic disease risk in children and youth.  It begins:

Welcome to our 5-part series delving into the fascinating research being performed in the emerging field of sedentary physiology.  Today, we’ll start with an introduction.  For Part 2 in our series, click here.

……., I’d like to give a bit of background.

What is sedentary behaviour?
Sedentary behaviours are those characterized by very low energy expenditure – typically those requiring 1.5 METs or less.

Here are links to all 5 parts:
Sedentary Physiology Part 1 – Not Just The Lack of Physical Activity
Sedentary Physiology Part 2 – Can Sitting Too Much Kill You?
Sedentary Physiology Part 3 – The Importance of Interruptions in Sedentary Time
Sedentary Physiology Part 4 – How Does Sitting Increase Health Risk?
Sedentary Physiology Part 5 – Future Directions

……………………………………….

Medical advances can be amazing!  This NPR story by Richard Knox is exemplary of just such an advance in the field of congenital heart malformations:   Stitch In Time: Fixing A Heart Defect Before Birth

…….

About 17,000 U.S. babies are born every year with a serious heart defect. Nobody knows how many might benefit from the kind of fetal surgery Wells had. ……

The root cause of HLHS, much of the time, is a partially blocked valve that regulates blood flow from the heart's main pumping chamber, the left ventricle, to the aorta, which carries blood to the entire body. …

The goal of fetal heart surgery is "to open the aortic valve at a point when the left ventricle is not quite beyond irreparable damage," says Dr. Wayne Tworetzky, a cardiologist at Children's Hospital in Boston.  ….

…………………………….

NPR story by Susan Stamberg: In Paris, A Display From Hockney's Pixelated Period.   All the drawings are done on either an iPhone or iPad.  Beautiful!  (photo source)

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Hemifacial Microsomia

Updated 3/2017-- photos and all links (except to my own posts) removed as many are no longer active and it was easier than checking each one.

Every holiday season brings us news of thefts.   Sometimes followed up by good people stepping forward to restore or replace the item(s) stolen.  This year is no different.

Mid-November someone stole $8,000 from  a fundraiser held to raise money for a a New York City firefighter son.  Aidan Sullivan,  9 years old, was  born with hemifacial microsomia.  In Aidan’s case, this birth defect has left  one side of his face underdeveloped, deformed his jaw and skull and left him without a right ear.  (photo credit)

The Vincent Crotty Memorial Foundation  is replacing the money that was stolen.  The money is needed to offset the portion insurance doesn’t cover (deductible, family percentage, etc) which is estimated to be in the $10,000 to $15,000 range.  Aiden’s surgery is scheduled for this spring at NYU's Langone Medical Center in Manhattan.

Best wishes to you Aiden.

….

What is hemifacial microsomia? 

It is a developmental birth defect involving the first two branchial arches resulting in incomplete development of the ear, nose, soft palate, lip and mandible.  The syndrome varies in severity, but always includes the mal-development of the ear and the mandible. This is the second most common facial birth defect after clefts.

Hemifacial microsomia is also known as first and second branchial arch syndrome, craniofacial microsomia, oral-mandibular-auricular syndrome, otocraniocephalic syndrome, auriculobranchiogenic dysplasia, necrotic facial dysplasia, intrauterine facial necrosis, otomandibular dystosis, hemignathia and microtia syndrome, and unilateral facial agenesis.

Hemifacial microsomia syndrome is made up of a constellation of congenitally malformed facial structures which arise from the first and second branchial arches, the intervening first pharyngeal pouch and first branchial cleft.

Hemifacial microsomia is reported to occur in approximately 1 per 25-45,000 births.  Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

Hemifacial microsomia syndrome is most often not completely expressed.  If it were, the child would exhibit the following:

• Unilateral or bilateral underdevelopment of the external ear, middle ear, mandible, zygoma, maxilla, temporal bone, facial muscles, muscles of mastication, palatal muscles, tongue, and parotid gland.
• Macrostomia 
• First branchial cleft sinus

The goals of surgery will depend on the child’s problems, but in general aim to improve facial symmetry and restore normal occlusion and TMJ joint function.

Common surgeries include:

• lowering the upper jaw to match the opposite side and lengthening the lower jaw. Sometimes a bone graft is used to lengthen the jaw and sometimes a distraction device is used.
• Ear reconstruction at about 5-6 years of age, involves 3 to 4 surgeries.
• Occasionally, it may be necessary to add bone to build up the cheekbone.
• Some children benefit from the addition of soft tissues to further balance the face.

Related posts
Microtia (September 14, 2007)
Constricted Ear Deformity (September 15, 2007)


REFERENCES

Craniofacial, Distraction Osteogenesis; eMedicine article, June 30, 2009; Pravin K Patel, MD, Marco F Ellis, MD, and Linping Zhao, PhD, MSE

The National Craniofacial Association

The First and Second Branchial Arch Syndrome; Plastic & Reconstructive Surgery: November 1965 - Volume 36 - Issue 5 - ppg 485-508

Syndromes of the First and Second Pharyngeal Arches: A Review; Am J Med Genet Part A 149A:1853–1859, 2009; Passos-Bueno MR, Ornelas CC, Fanganiello RD.

Tuberous Breasts

Updated 3/2017-- photos and all links (except to my own posts) removed as many are no longer active and it was easier than checking each one.

The latest edition of the Aesthetic Surgery Journal (Sept/Oct 2010) has a really nice article (first reference below) on this tuberous breasts. One of the best things about the article is the great photos, both of the deformity (includes this one to the right) and the corrective procedure.

Another nice thing the article has is the review of the breast’s embryology which is critical to understanding the formation of the deformity (bold emphasis is mine).

The breast originates from the mammary ridge, which develops in utero from the ectoderm during the fifth week. Shortly after its formation (in the seventh to eighth weeks), most parts of this ridge disappear, except for a small portion in the thoracic region, which persists and penetrates the underlying mesenchyme around 10 to 14 weeks. Further differentiation and development of the breast occurs during the intrauterine life and is completed by the time of birth, after which essentially no further development occurs until puberty.

During puberty, the mammary tissue beneath the areola grows with enlargement of the areola, until the age of 15 to 16, when the breast assumes its familiar shape. As a result of the ectodermal origin of the breast and its invagination into the underlying mesenchyme, the breast tissue is contained within a fascial envelope, the superficial fascia. This superficial fascia is continuous with the superficial abdominal fascia of Camper and consists of two layers: the superficial layer (which is the outer layer covering the breast parenchyma) and the deep layer (which forms the posterior boundary of the breast parenchyma and lies on the deep fascia of the pectoralis major and serratus anterior muscles). The deep layer of the superficial fascia is penetrated by fibrous attachments (suspensory ligaments of Cooper), joining the two layers of the superficial fascia and extending to the dermis of the overlying skin and the deep pectoral fascia. Of note is that the superficial layer of this fascia is absent in the area underneath the areola, as can easily be demonstrated by the invagination of the mammary bud in the mesenchyme.

Clinical experience has shown us and other authors that in cases of tuberous breasts, there is a constricting fibrous ring at the level of the periphery of the nipple-areolar complex that inhibits the normal development of the breast. This constricting ring of fibrous tissue is denser at the lower part of the breast and does not allow the developing breast parenchyma to expand during puberty. Histology confirmed the existence of such dense fibrous tissue in the area of this “constricting ring.” Specimens from two of our patients have been examined, and they showed large concentrations of collagen and elastic fibers, arranged longitudinally. We believe this ring represents a thickening of the superficial fascia, as described earlier. Perhaps the two layers of this fascia join at a higher level than usual, or the suspensory ligaments are thicker and more dense.

Tuberous breast deformity is a rare condition that becomes apparent during teenage years as the breast develop. As noted in the embryology description, the deformity is due to a constricting fibrous ring which does not allow the breast to form in a normal shape.

The deformity which was first described in 1976 by Rees and Aston, can be either unilaterally or bilaterally. When bilateral, the deformity may be vary in degree. It has many other names: tubular breasts, Snoopy breasts, herniated areolar complex, domed nipple, nipple breast, constricted breast, lower pole hypoplasia, and narrow-based breast.

A common classification of tuberous breast deformity is the one proposed by Grolleau et al (photo credit):

• Type I: deficiency of the lower medial quadrant. (A)
• Type II: deficiency of both lower quadrants. (B)
• Type III: deficiency of all four quadrants. (C,D)

The only way to correct this deformity is surgery. Even if no implant is needed or desired, the nipple/areolar complex benefits from a periareolar donut-type skin excision, reducing the areola to the desired size, usually 4 to 4.5 cm in diameter.

I agree with the authors that the constricting fibrous ring needs to be divided so the breast parenchyma can assume a more natural shape. When an implant is used, the subglandular or duel-plane position is preferred.

I would encourage reading the full article for more tips.

REFERENCES

Aesthetic Reconstruction of the Tuberous Breast Deformity: A 10-Year Experience; Mandrekas AD, Zambacos GJ; Aesthetic Surgery Journal September/October 2010 30: 680-692, doi:10.1177/1090820X10383397

The tuberous breast; Rees TD, Aston SJ; Clinics of Plastic Surgery 1976;3:339-347.

Breast Base Anomalies: Treatment Strategy for Tuberous Breasts, Minor Deformities, and Asymmetry; Grolleau, Jean-Louis; Lanfrey, Etienne; Lavigne, Bruno; Chavoin, Jean-Pierre; Costagliola, Michel; Plastic & Reconstructive Surgery. 104(7):2040-2048, December 1999.

Aesthetic Reconstruction of the Tuberous Breast Deformity; Mandrekas, Apostolos D.; Zambacos, George J.; Anastasopoulos, Anastasios; Hapsas, Dimitrios; Lambrinaki, Nektaria; Ioannidou-Mouzaka, Lydia; Plastic & Reconstructive Surgery. 112(4):1099-1108, September 15, 2003.

Treatment of Common Congenital Hand Conditions – an Article Review

 Updated 3/2017-- photos and all links (except to my own posts) removed as many are no longer active and it was easier than checking each one.

This is a very nice article of five common congenital hand conditions.    The online journal includes three informative videos of surgeries with tips.

Syndactyly

Syndactyly is a common congenital hand anomaly, occurring in approximately one in every 2000 to 3000 live births.  Syndactyly can be inherited in an autosomal dominant manner, with variable expression or reduced penetrance.  It may also occur sporadically.

Syndactyly is classified as

• complete when the fingers are fused all the way to the tip, including the nail folds
• incomplete when the nail folds are not involved
• simple when the fingers are fused by a skin bridge
• complex when the bones are fused together

Syndactyly between the middle and ring fingers is most common, occurring in 57% of the cases, followed by the ring and little fingers, which occurs in 27% of the cases.

Constriction Ring Syndrome

Constriction ring syndrome is a rare condition with a reported incidence ranging from one in 1200 to one in 15,000 births.   The index, middle, and ring fingers are frequently affected, whereas the thumb is occasionally involved.  Deformities usually occur in multiple extremities and are most predominant in the distal parts.

Constriction ring syndrome is a condition in which the limbs or digits of the fetus become entangled with strands of the embryonic membrane.   This entanglement can create problems which include amputation, acrosyndactyly, and lymphedema.

The part of the finger distal to the constriction ring is often hypoplastic or absent, whereas the proximal part is intact.

• Mild constriction ring is often asymptomatic.
• Moderate constriction ring causes lymphedema distal to the ring.
• Severe constriction ring blocks circulation of the arterial and venous system and causes nerve palsy resulting from nerve compression.

Duplicated Thumb

The incidence of duplicated thumb (preaxial polydactyly) is approximately one in 3000 live births.  It is most commonly found in Asians (2.2 in 1000).   The incidence in other groups:   Native Americans (0.25 in 1000), African Americans (0.08 in 1000), and Caucasians (0.08 in 1000). 

The majority of duplicated thumb cases are sporadic and unilateral, and do not require genetic consultation.  It is possible that triphalangeal thumb is associated with an autosomal dominant inheritance pattern.

Wassel Classification--Types I to VII based on level of duplications:
I : bifid distal phalanx (DP)(bone under the finger nail)
II: duplicated DP
III: bifid proximal phalanx (PP) (digit bone nearest the palm)
IV: most common type with duplication of proximal phalanx which rest on broad metacarpal
V: bifid metacarpal (MC) (bone in palm)
VI: duplicated MC
VII: triphalangism

Hypoplastic Thumb

Hypoplastic thumb can be present in isolation or in combination with any radial deficiency.  After duplicated thumb, hypoplastic thumb is the second most frequently encountered thumb anomaly.   Bilateral thumb involvement occurs in approximately 60% of children with thumb hypoplasia.

The Blauth-Buck-Gramcko classification is widely used to describe the hypoplastic thumb and is based on web space narrowing, hypoplasia of musculoskeletal components, joint instability, and abnormalities of extrinsic tendons.

Hypoplastic thumbs are associated with systemic syndromes such as Holt-Oram syndrome; the vertebral, anal, tracheal, esophageal, phalangeal, and renal (VATER) anomalies; or Fanconi anemia in 18 to 43 percent of the patients.  The entire affected upper extremity should be examined to determine the extent of the deficiency over the radial side of the limb.

Trigger Thumb

Trigger thumb in children is characterized by flexion at the interphalangeal joint and rarely presents with snapping as in adults. In most cases, a nodule or thickening of the A1 pulley is palpable.

Controversy remains as to whether the trigger thumb found in children is a congenital disorder or acquired after birth.

A prospective investigation of 1166 neonates showed no trigger thumb at birth, but two cases were observed at a 1-year follow-up.  Several other studies have also supported the opinion that childhood trigger thumb is an acquired rather than congenital condition.  However, cases of trigger thumb associated with trisomy 13 (Patau syndrome), fraternal twins, and families with generational occurrence indicate that there may be a heritable component in certain patient populations.

This article and the companion videos are worth your time.


REFERENCES

Treatment of Common Congenital Hand Conditions; Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.; Plastic & Reconstructive Surgery. 126(3):121e-133e, September 2010.

Treatment of Common Congenital Hand Conditions - Video 1 - Syndactyly release with proximal-based dorsal rectangular flap

Treatment of Common Congenital Hand Conditions Video 2 - Ablation of the radial thumb and ligament reconstruction

Treatment of Common Congenital Hand Conditions - Video 3 - Pollicization of the index finger

Chinese Boy with 31 Fingers and Toes

Updated 3/2017 -- photos and all links (except to my own posts) removed as many no longer active. and it was easier than checking each one.

Daily Mail ran a story recently on a Chinese boy, 6, who was born with 31 fingers and toes (15 fingers and 16 toes).  The story reporting on the child having surgery to correct the congenital anomaly.  (photo credit)

Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot.  Rarely is it more than one or two extra.  Polydactyly  occurs in approximately 1 out of every 1,000 births. Usually, only one hand is affected.

In the hand, the extra digit(s) may be located on the thumb side  (radial), the small finger side (ulnar), or in the middle (central). 

In the black population an extra finger on the little finger side (ulnar polydactyly) is most common. The most common congenital hand difference in the Asian population is an extra thumb (radial polydactyly).

Central polydactyly is inherited as an autosomal dominant condition with variable expression, meaning that it may be more or less severe from one generation to the next.

This young Chinese boy’s extra fingers were located centrally and the skin fused together (syndactyly).  This is much more rare than either radial or ulnar polydactyly.  (photos credit)

Histologic Relationship of Preauricular Sinuses to Auricular Cartilage: an Article Review

Updated 3/2017-- photos and all links (except to my own posts) removed as many no longer active. and it was easier than checking each one.

There is a nice article in the journal Archives of  Otolaryngology-- Head Neck Surgery (first reference below) which examines the relationship of preauricular sinuses to auricular cartilage. 

Preauricular sinuses are a congenital malformation of the preauricular soft tissues.   They can be both sporadic and inherited. They are bilateral in approximately 25% to 50% of patients. When bilateral, the sinuses are more likely to be inherited in an autosomal dominant pattern with reduced penetrance and variable expression. 

Although the true prevalence is not well established, preauricular sinuses are thought to occur most commonly in black populations. The incidence of preauricular sinuses has been estimated to be 0.1% to 0.9% in Europe and the United States.

Preauricular sinuses are the most common variant of all the periauricular cysts, fistulas, and sinuses. The cutaneous pit of the preauricular pit is most often located on or near the ascending limb of the helical rim but can also open along the superior posterior margin of the helix as well as the tragus. 

While both cutaneous opening and fistulous tracts are classically located anterior to the external auditory canal, a reported variant form has its opening behind an imaginary vertical line drawn at the posterior most aspect of the tragus and the posterior aspect of the ascending limb of the helix. This variant typically presents with postauricular swelling and requires both postauricular and preauricular incisions for its removal.

The article takes you through a review of the embryology and then takes you through surgical treatment

Classically, the surgical approach consists of a simple sinectomy with an elliptical island of skin removed around the opening of the sinus and excision of the epithelial sinus tract. Various authors have advocated the use of either methylene blue or gentle probing of the tract to carefully delineate the tract.   However, neither approach guarantees full removal of the tracts: reported recurrence rates are quite high, typically near 20%…………..

There conclusions

Because the present study is not a randomized controlled trial, our findings cannot be used to determine whether excision of cartilage or perichondrium prevents recurrence of preauricular sinuses. …… In over 50% of the specimens reviewed, the sinocartilaginous distance was less than 0.5 mm, and in nearly all of these cases, the epithelial tract was in continuity with stromal tissue histologically indistinguishable from the perichondrium.

The removal of a small piece of cartilage or perichondrium does not produce a visible cosmetic deformity or add any significant morbidity. Therefore, the routine removal of a small portion of perichondrium and/or auricular cartilage along with the sinus tract may yield a more thorough excision and help to prevent recurrence.

REFERENCE

The Histologic Relationship of Preauricular Sinuses to Auricular Cartilage; Arch Otolaryngol Head Neck Surg. 2009;135(12):1262-1265; Brian Dunham, MD; Martha Guttenberg, MD; Wynne Morrison, MD; Lawrence Tom, MD

Preauricular Sinuses; eMedicine Article, January 8, 2010; Noah Scheinfeld, MD, Valerie Nozad, DO, and Jeffrey Weinberg, MD

Surgical Treatment of Recurring Preauricular Sinus: Supra-auricular Approach; Acta Otorhinolaryngol Ital. 2008 December; 28(6): 302–305; G Leopardi, G Chiarella,  S Conti, and E Cassandro

The Preauricular Sinus: A Review of Its Aetiology, Clinical Presentation and Management; International Journal of Pediatric Otorhinolaryngology (2005) 69, 1469—1474; T. Tan, H. Constantinides, T.E. Mitchell

Clinical and Radiographic Poland Syndrome Classification: A Proposal – an Article Review

The authors of the recent Aesthetic Surgery Journal article (full reference below) have proposed a new classification of Poland Syndrome based on both clinical and radiographic presentation (CRPS). Using their CRPS classification, they present an algorithm for planning surgical treatment.

The article begins with a review of Poland Syndrome:

Classically, it consists of a combination of unilateral aplasia of the sternocostal portion of the pectoralis major muscle (PMM) and hypoplasia of the ipsilateral hand, with syndactyly and synbrachydactyly.

The reported incidence of Poland Syndrome (PS) is one in 30,000 live births. Male-to-female ratio is 3:1. The right side is affected twice as often as the left.

The etiology of PS is still unknown, but recently a vascular hypothesis suggests hypoplasia of the ipsilateral subclavian artery.

Using data obtained from 28 female patients, they classify PS patients as follows:

First Degree (Mild): The diagnosis of first-degree PS would be made in a patient with mammary asymmetry caused by hypomastia or amastia and areolar asymmetry, with or without a partial absence of the pectoralis major muscle (PMM). No other musculoskeletal alterations are observed; other congenital alterations may or may not be present.

Second Degree (Severe): Hypomastia or amastia, areolar asymmetry, total absence of the PMM, and alterations of the ipsilateral muscle group and/or bones of the chest results in a diagnosis of second-degree PS; ipsilateral superior limb alteration and other congenital alterations may or may not be present.

Third Degree (Very Severe): Third-degree PS would be diagnoses in patients with amastia; areolar asymmetry; major ipsilateral musculoskeletal chest alterations, such as total absence of the PMM, the pectoralis minor muscle, and /or the serratus anterior muscle; possible lung herniation; widened opening of the mediastinum; and ipsilateral superior limb alteration. Other congenital alterations may or may not be present.

Suggested surgical approach for each degree of presentation:

First Degree (mild) – Breast implantation or customized breast implantation and contralateral mammary reduction or augmentation when needed (symmetrization procedure).

Second Degree (severe) – Tissue expander placement when needed; regional local flap surgery; breast implantation or customized breast implantation; symmetrization procedure.

Third Degree (very severe) – Tissue expander placement; latissimus dorsi flap or other flap surgery, such as a free flap or transverse rectus abdominis myocutaneous (TRAM) flap; breast implantation or customized breast implantation as needed; other surgeries such as the Ravitch procedure and a contralateral symmetrization procedure.

REFERENCE

Clinical and Radiographic Poland Syndrome Classification: A Proposal; Aesthetic Surgery Journal, Volume 29, Issue 6, Pages 494-504 (November 2009); Ricardo Cavalcanti Ribeiro, Renato Saltz, M. Gabriela Moreira Mangles, Hilton Koch (subscription required)

Microcystic Lymphatic Malformations of the Tongue – an Article Review

Updated 3/2017-- photos and all links (except to my own posts) removed as many no longer active. and it was easier than checking each one.

I stumbled across this article while previewing JAMA & Archives CME articles (full reference below). The article gives an overview of lymphatic malformations, noting that both sexes are equally affected, and there is no predilection for any race.

Lymphatic malformations are vascular malformations with an unknown cause. They are estimated to make up 6% of all benign soft-tissue tumors in children. While they may be rare, 50% of all lymphatic malformations are already obvious at the time of birth. Most (90%) are diagnosed by the end of the second year of life owing to clinical symptoms.

About 60% of all lymphatic malformations are found in the head and neck region. Regarding the mouth, the tongue is most commonly affected.

When the malformations occur in the tongue, the symptoms may include hemorrhage, excessive salivation, speech disturbances, difficulties chewing and swallowing, airway obstruction, and orthodontic abnormalities such as mandibular prognathism and malocclusion. Functional impairment and cosmetic deformity significantly affect the quality of life of patients with lymphatic malformations of the tongue.

Along with the overview, the authors present the review of their patients between January 1, 1998, through December 31, 2008, with respect to age and sex distribution, symptoms, clinical presentation, management, treatment outcome, and follow-up.

Twenty patients (13 male and 7 female) with microcystic lymphatic malformations of the tongue were included in the evaluation. Their ages at initial presentation ranged from newborn to 20 years (mean age, 7.4 years). Thirteen of them had been treated at another hospital before the initial presentation at our department. The treatment methods included surgical reduction, laser therapy, corticosteroid therapy, and OK-432 (Picibanil; Chugai Pharmaceutical Co, Ltd, Tokyo, Japan) injections.

The authors present the classification of lymphatic malformations (photo credit)

• Isolated superficial microcystic lymphatic malformations of the tongue (stage I)
• Isolated lymphatic malformations of the tongue with muscle involvement (stage II; stage IIA, involving a part of the tongue; stage IIB, involving the entire tongue)
• Microcystic lymphatic malformations of the tongue and the floor of mouth (stage III)
• Extensive microcystic lymphatic malformations involving the tongue, floor of mouth, and further cervical structures (stage IV)

• 
  

The article discusses treatment options:

In the present series of patients with microcystic lymphatic malformations of the tongue, it was possible to perform complete excision with a CO₂ laser in all patients with stage I disease and in 3 patients with stage IIA disease. …….. The advantages of the CO₂ laser compared with conventional surgery include less postoperative edema, tissue trauma, and blood loss……... For stages I and IIA microcystic lymphatic malformations of the tongue, CO₂ laser surgery seems to be an excellent curative treatment option. In stages IIB, III, and IV disease, CO₂ laser surgery seems to be useful as a part of a combined or staged approach.

Other treatment modalities discussed include radiofrequency ablation, sclerotherapy (specifically OK-432 injections), and other surgical options, including wedge resection, bilateral marginal resection, U-shaped resection, and Jian or Dingman glossectomy.

Treatment of infected cysts before surgery:

The combination of antibiotics and short-duration systemic corticosteroids usually leads to a reduction of symptoms and a decrease of swelling and inflammation as described in patient 2.

I think the article is well written and well worth reading.

REFERENCE

Microcystic Lymphatic Malformations of the Tongue: Diagnosis, Classification, and Treatment; Arch Otolaryngol Head Neck Surg. 2009;135(10):976-983; Susanne Wiegand, MD; Behfar Eivazi, MD; Annette P. Zimmermann, MD; Andreas Neff, MD, PhD; Peter J. Barth, MD, PhD; Andreas M. Sesterhenn, MD, PhD; Robert Mandic, MD, PhD; Jochen A. Werner, MD, PhD

My post: Vascular Birthmarks (July 15, 2007)

Macrodactyly

Updated 3/2017-- photos and all links (except to my own posts) removed as many no longer active. and it was easier than checking each one. 

Macrodactyly is an uncommon anomaly of the extremities.  It can affect both the fingers or toes which become abm=normally large due to overgrowth of the tissues composing the digit.  All the tissues are involved:   bone and soft tissue-particularly the nerves, fat and skin.

Other names used for macrodactyly include megalodactyly, overgrowth, gigantism, localized hypertrophy, or macrodactylia fibrolipomatosis.

Hands are more commonly involved than feet. Most of the time (~90%) patients present with unilateral (one side affected) macrodactyly.  Often more than one digit is involved.   The most frequently involved digits of the hand are the index finger, followed by the long finger, thumb, ring, and little fingers.  Syndactyly may be present in 10% of patients.   Men are more often affected than women.

It is not known why macrodactyly occurs.  It does not appear to be an inherited anomaly, but there are some syndromes (ie Proteus Syndrome, Maffuci syndrome, and tuberous sclerosis) which may be associated with enlarged digits. There are some surgeons who believe that macrodactyly is a variant of neurofibromatosis. 

Macrodactyly may be either static or progressive.   The progressive type is more common than the static.

• In static the enlarged digit (finger or toe) is present at birth and continues to grow at the same rate as the normal digits of the hand.  The involved digits are generally about 1.5  times the normal length and width of the normal digits.
• In progressive the affected digits begin to grow soon after birth and continue growing faster than the rest of the hand.  The involved digit or digits can become enormous.

There is no medical treatment for this disorder.  It is treated by surgery.   In the hand, the indications for surgery can often be cosmetic in nature as the hand can functionally tolerate a digit with some increased width and length.  In the foot, the enlarged digit can make shoe fitting/wearing difficult.

Surgical treatment of macrodactyly is complex as multiple tissue layers are involved.  It typically will involve debulking, epiphyseal arrest, and shortening.  Multiple surgeries are the norm.

Soft tissue debulking:

• This is done to help correct the width of the digit. This is often done at the same time as the epiphyseal arrest.   The affected fingers are approached volarly with Bruner-type incisions/flaps. The fat is removed from the skin and the tissues are debulked.
• Care is taken to preserve the ulnar and radial digital neurovascular bundles. Sometimes the enlarged nerve branches will need to be sacrificed along with the enlarged subcutaneous tissues.
• When a sufficient amount of tissue has been removed, the skin flaps are overlapped and excised, which allows for tension-free closure.  It needed, skin grafts using healthy skin will be done.
• Debulking is often need to be done in staged procedures.

Shortening procedures:

• This is done to help correct the length of the digit.  Shortening procedures usually involve either surgical excision (removal) of one of the phalanges of the finger or toe, or removal of a metacarpal (hand bone) or metatarsal (foot bone).  
• Barsky and Tsuge originally introduced the two most described methods. Barsky’s technique involves removing the distal portion of the middle phalanx and proximal portion of the distal phalanx, thereby reducing the length of the finger while preserving the nail. Tsuge’s technique also preserves the nail by overlapping the dorsal portion of the distal phalanx with the volar portion of the middle phalanx.

Ray resection:

• This may be done in progressive macrodactyly.  It involved the complete removal of the digit or digits.  It is also an option if there is excessive widening of the forefoot, where digital shortening and debulking procedure may not be effective.

Epiphyseal Arrest:

• The timing of the this surgery is critical.  An attempt to “guess” the adult finger length is done by comparing the child’s digits with those of his/her parents.  When growth of the affected digits matches those of the parent, epiphyseal arrest can be performed.   This in effect will stop the bone growth of the digit.
• The epiphyses of the proximal and distal phalanges  are the ones treated by disruption or removal.   The middle phalanx epiphyses is not treated to help preserve motion at the proximal interphalangeal joint.

Other surgical options include amputation and wedge osteotomies.  Amputation is reserved for patients with nonfunctioning digits or digits that are extremely difficult to correct.  Wedge osteotomies are performed in patients who have digits that are grossly deviated.

Complications of macrodactyly surgery include poor healing of flaps secondary to devascularization or undue tension, nerve injury or decreased sensation, infection, stiffness, bony nonunion or malunion, and failure of the epiphysiodesis.

REFERENCES

Wood VE. Macrodactyly. In: Green DP, Hotchkiss RN, eds. Operative Hand Surgery. 4th ed. New York, NY: Churchill Livingston; 1998:533-544.

Treatment of macrodactyly;  Plast Reconstr Surg. 1967; 39:590-599; Tsuge K.

Congenital anomalies of the hand; Cohen M, ed. Mastery of Plastic and Reconstructive Surgery. New York, NY: Little, Brown and Company; 1994; Upton J, Hergrueter C.

Macrodactyly; Boston Children’s Hospital website

Macrodactyly; Wheeless’ Textbook of Orthopaedics

Macrostomia

Updated 3/2017-- photos and all links removed as many are no longer active and it was easier than checking each one.

 
The word macromastia simply means "abnormal largeness of the mouth". It is much too simple a word.

Congenital macrostomia or transverse facial cleft or Tessier No 7 is a rare congenital craniofacial anomaly. Transverse facial clefts account for only 1 in 100 to 1 in 300 of all patients with facial clefts. It is estimated to occur in 1 in 80,000 live births. Males are more frequently affected than females. Bilateral involvement is rare. When unilateral, the left side is most frequently affecte.

It has been termed as hemifacial microsomia, craniofacial microsomia, first and second branchial arch syndrome and otomandibular dysostosis. Clinical expression is variable. A preauricular skin tag can be present in microform cases. In it’s complete form, cleft begins as a macrostomia at the oral commissure and continuous across the cheek toward a microtic ear (photo of extreme case). All soft tissues may be underdeveloped on affected site. Osseous manifestations also cover a wide range.

Unilateral first and second branchial arch syndrome is almost always sporadic in occurrence. Facial features begin to develop during the fourth week of embryonic life and differentiation of structures progresses through the eighth to ninth week. This link shows an animation of the normal development of the face. Some evidence suggests that disturbance in the embryonic blood supply, the stapedial artery that provides temporary blood supply to this area in the embryo, during mesechymal ingrowth could result in first arch deformities in the developing face.

Regardless of the cause, the mouth deformity is one of muscle, subcutaneous tissue, and skin. The deformity is particularly evident when the affected child cries or laughs because the absence of the orbicularis oris muscle allows a wide gapping of the commissure. Supernumerary auricular cartilage anterior to the tragus and anomalies in the ipsilateral (same side) ear lobule are present in almost all individuals with this syndrome.

The operative technique for repair should be designed to reconstruct the muscular continuity of the orbicularis, preserve the rounded commissure with vermillion, and minimize scar formation. The standard correction uses an overlapping myoplasty at the commissure and a Z-plasty for the skin closure. Some would argue that a better scar is obtained by the straight line method. 

References

• A Rare Craniofacial Cleft: Tessier No. 7: A Retrospective Analysis; Journal of Ankara Medical School Vol 24, No 2, 2002 63-68; Serdar Gökrem, Orhan Murat Özdemir, Arda Katırcıoğlu, Zeynep Şen, Atilla Ersoy, Zeki Can, Murat Emiroğlu, Serdar Gültan
• Common Craniofacial Anomalies: The Facial Dysostoses; Plastic & Reconstructive Surgery. 110(7):1714-1726, December 2002; Hunt, Jeremy A. M.D.; Hobar, P. Craig M.D.
• Anatomical classification of facial, cranio-facial and latero-facial clefts; J. Maxillofac. Surg. 4: 69, 1976; Tessier, P
• Manifestations of Craniofacial Syndromes by Ted L Tewfik, MD, FRCSC--eMedicine Article
• Picture of the Month; Arch Pediatr Adolesc Med, Vol 153, Aug 1999, pp 889-890; Mendez, Robero MD, et al
• Macrostoma Repair: 15-Year Experience; Plastic & Reconstructive Surgery. 119(2):757-758, February 2007; Lezama-Reus, Marco A. M.D.; Moreno-Penagos, Gregorio M.D.; Ramirez-Ledesma, Sergio G. M.D.; Lozano-Gutierrez, Marco A. M.D.; Ramos-Valdelamar, Francisco M.D.
• Straight Line Closure of Congenital Macrostomia; Indian J Plastic Surg, July-December 2004 Vol 37 Issue 2; Schwarz, Richard; Sharma, Digvijay
• Normal Lip Anatomy--wonderful slides

Thyroglossal Duct Cyst

Updated 3/2017-- photos and all links removed as many are no longer active and it was easier than checking each one.

Thyroglossal duct cysts(TGDC) are the second most common neck masses. Approximately 7% of the adult population has thyroglossal remnants, with an equal sex distribution.

Thyroglossal duct cysts are cysts that are left over when the thyroid migrates from the base of the tongue into the neck before birth, leaving behind an epithelial trace known as the thyroglossal tract. This tract usually disappears during the 5th-10th gestational week. Incomplete atrophy of this tract, or retained epithelial cysts, creates the basis for the origin of TGDC. A thyroglossal remnant can be a cyst, a tract (or duct), a fistula, or an ectopic thyroid within a cyst or duct. The cyst usually lies in the middle of the neck in front of the "Adam's Apple".

Thyroglossal duct cysts usually show up in the first ten years of life, but may be found in older children or even adults. Most of the time it is a benign cyst that usually contains mucous or even pus-like fluid. (The incidence of primary carcinoma within the thyroglossal duct (TGD)varies in the literature, and ranges from 0.7%–1.6%. These figures pertain to patients of all ages, but in the pediatric population this cancer is even scarcer.)

Thyroglossal duct cysts are usually in the middle of the neck and seem to move up and down during swallowing. Because thyroid tissue may be inside the cyst, it is important to make sure that the thyroid gland has developed normally (and that not all the thyroid tissue is within the cyst). This is done by assessing the thyroid function by using blood tests (TSH, T3, T4), ultrasound exam, thyroid scans, or an MRI.

Once these tests have been completed, excision of the cyst may be performed as an outpatient procedure. The common surgical procedure used to excise TGDC is the Sistrunk procedure, consisting of excision of the TGDC, the central portion of the body of the hyoid bone, and a core of tissue around the thyroglossal tract to open into the oral cavity at the foramen cecum. This allows the excision of all possible TGD remnants without actually visualizing them. The recurrence rate of thyroglossal remnants is 6%–10%.

If the only thyroid tissue found in the patient is located in the thyroglossal duct cyst, the treatment options are as follows:

1. Remove the thyroglossal duct cyst and thyroid tissue, and start lifelong thyroid hormone replacement therapy (under a specialist's supervision)
2. Attempt to keep the ectopic thyroid tissue in place, while stopping further growth of the tissue with medications (thyroxine - a thyroid hormone). Unfortunately, if the ectopic thyroid gland continues to cause symptoms in the patient (breathing or swallowing problems, bleeding or repeated infections), it will ultimately be recommended for removal.
3. For those patients unable to tolerate surgery and who have failed a thyroid hormone trial, radiation therapy may be an option.

References

• Thyroglossal Duct Cyst--Children's Hospital Web-Article
• Thyroglossal Duct Cyst--University of Virginia Health System Web-Article
• Thyroglossal Dust Cyst Excision--Pediatric Otolaryngology Web-site
• Evaluation of neck masses in children. American Family Physician, 51:1904–191, 1995; Park YW
• Thyroglossal Duct Cyst; American Family Physician, Sept, 1990 by Mark Girard, Salvatore A. Deluca
• Hypothyroidism Following Removal of a "Thyroglossal Duct Cyst"; Plastic & Reconstructive Surgery. 68(6):930-932, December 1981; Conklin, William T. M.D.; Davis, Robert M. M.D.; Dabb, Richard W. M.D.; Reilly, Charles M. M.D.
• The surgical treatment of cysts of the thyroglossal tract; Ann Surg 71:121–129, 1920; Sistrunk WF
• Thyroglossal Duct Carcinoma in Children: Case Presentation and Review of the Literature --MedScape Article by Asaf Peretz; Esther Leiberman; Joseph Kapelushnik; Eli Hershkovitz