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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Aplasia cutis congenita

Introduction

Synonyms and keywords: Cutis aplasia; congenital absence of skin; congenital scars

Overview

Overview

Aplasia cutis congenita is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.[1] [2]

Pathophysiology

Pathophysiology

Genetics

This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [3]

Associated Conditions

It can be associated with

It is also seen with exposure to Methimazole and/or Carbimazole in utero.

Diagnosis

Diagnosis

Physical Examination

Skin

Trunk

See also

References

  1. ↑ Freedberg, et al. (2003). Fitzpatrick’s Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews’ Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ↑ Malan, Valerie; et al. “array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically”. J. Med. Genet. Retrieved April 8, 2009.
  4. ↑ Online Mendelian Inheritance in Man (OMIM) 107600


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2] Kiran Singh, M.D. [3]