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[Unilateral focal dermal hypoplasia].

L Denis-Thely1, M P Cordier, F Cambazard

  • 1Service de Dermatologie, CHU Saint-Etienne, France.

Annales De Dermatologie Et De Venereologie
|November 21, 2002
PubMed
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This case report details an unusual presentation of Goltz syndrome (focal dermal hypoplasia) with lesions restricted to one side of the body. This rare unilateral manifestation suggests a probable de novo, potentially post-zygotic, mutation.

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant disorder.
  • It affects cutaneous, bone, dental, and ocular tissues.
  • The specific gene responsible for Goltz syndrome remains unidentified.

Observation:

  • A 16-month-old female presented with congenital unilateral malformations and skin lesions affecting the right side.
  • Affected features included limb abnormalities (hypodactyly, oligodactyly), dysplastic teeth, and nail anomalies.
  • Cutaneous findings were unilateral, comprising epidermal hamartoma, alopecia, and atrophic striations.

Findings:

  • Radiographic and sonographic evaluations revealed no subclinical bone lesions or internal abnormalities.
  • Ophthalmological examination and psycho-motor development were normal.

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  • The unilateral presentation of Goltz syndrome is highly unusual, with only one prior reported case.

    • Implications:

    • The observed unilateral pattern suggests a probable de novo mutation, potentially occurring post-zygotically.
    • This case expands the understanding of Goltz syndrome's phenotypic variability.
    • Recurrence risk for this family is considered low due to the likely de novo mutation.