Congenital Patterned Leukodermas

Updated: Dec 09, 2016
  • Author: Raymond E Boissy, PhD; Chief Editor: William D James, MD  more...
  • Print
Overview

Background

The following congenital hypopigmentary diseases result from a failure of pigment cells (melanocytes) in the skin, eyes, and/or ears to become completely or partially established in their target sites during embryogenesis:

Patients with these congenital patterned leukodermas may also present with extrapigmentary findings consisting of megacolon and musculoskeletal defects of the face and upper trunk.

Next:

Pathophysiology

The unifying abnormality of these congenital patterned leukodermas is a complete or partial absence of melanocytes in the skin and hair. Mutations in genes that regulate the multistep process of commitment of neural crest cells to a differentiated cell type (primarily the melanocyte) are the basis for these diseases. These mutations result in a failure of melanocytes to reach their normal destinations in developing skin, hair, eyes, and ears during embryogenesis. [1, 2, 3, 4, 5, 6, 7]

Previous
Next:

Epidemiology

Frequency

The approximate prevalences of the listed congenital patterned leukodermas are as follows:

  • Waardenburg syndrome (types I, II, and III) - 1 case per 15,000 population
  • Apert syndrome - 1 case per 65,000 population
  • Pfeiffer syndrome - Unknown (rare)
  • Jackson-Weiss syndrome - Unknown (rare)
  • Crouzon syndrome - 1 case per 25,000 population
  • Waardenburg syndrome type IV (Hirschsprung syndrome) - 1 case per 5000 population
  • Piebaldism – Unknown (rare)

Race

All races appear to be equally affected by the associated mutations in congenital patterned leukodermas.

Sex

The prevalence of these congenital patterned leukodermas is equal for males and females.

Age

All of these congenital patterned leukodermas are present at birth.

Previous
Next:

Prognosis

In the congenital patterned leukodermas, an absence of protective pigment in the skin results in increased sensitivity to solar irradiation. Affected individuals may be at increased risk of developing skin cancers. Sensorineural deafness can be extensive in patients with Waardenburg syndromes and Hirschsprung syndrome but is usually minimal or absent in those with Apert, Pfeiffer, Jackson-Weiss, or Crouzon syndromes. Persons with piebaldism only rarely have sensorineural deafness. Visual acuity does not appear to be impaired in any of the syndromes.

Previous