Monthly Online Case Presentation of the Osteopathic Dermatology Residency Programs

Update Notification

Discuss this Case with Other Dermatologists *new*

Main Index

Previous Grand Rounds

Submission Guidelines

AOCD Home Page

Contact Editor

Announcement
Program Assignment

Dermatology Discussion

Western University of Health Sciences, Arizona Dermatology Program
Mesa, AZ

October, 2002

Presenters: Michael Sabat, MS, DO (2nd year resident), Megan Goff, DO (1st year resident), and Sam Smith, MPH, DO (1st year resident)

Program Director: Stephen Kessler, D.O.


Clinical Presentation

11 years old Hispanic Female

History

Chief Complaint: Painful blisters/ ulcerations since birth

Signs and symptoms: Fragility of skin and slowly healing, scarring erosions and ulcers, difficulty swallowing, decreased appetite and weight loss

Previous Treatment: : Oral Antibiotics, pureed diet, high calorie diet, wound care including Vaseline gauze and Bactroban ointment, TAC 0.1% ointment, mineral oil, senicot, Iron

Other Information: 12 year old sister has a similar presentation. Neither the parents nor another sibling are affected.

Physical Examination

Thin cachectic appearing 11 year old female appears younger than her stated age.  Erosions, ulcerations and scarring of the neck, posterior shoulders, axilla, lower abdomen and scalp.  Pseudosyndactyly of the 1st and 2nd digits of bilateral feet with anonychia.  Scarring of the palms, soles and scarring alopecia of the temporal scalp.   Oral mucosa with small linear erythematous erosions on the soft palate.


           

Laboratory Tests

Iron Deficiency Anemia on CBC and Iron Studies.
Positive Electron Microscopy showing absent anchoring fibrils.
Blood Leukocyte DNA analysis positive for COL7A1 gene mutations.
 

Dermatohistopathology

Microscopic description: Monoclonal antibody against Collagen 7 demonstrates absence of Collagen type 7 in the lesional, near perilesion, and distant perilesional skin. Cleavage plane of blistering is below the lamina densa by staining for BP230 and Collagen type IV which both localize to blister roof.

Differential Diagnosis