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[GAPO syndrome].

S Goucha1, B Fazaa, N Ezzine

  • 1Unité de Dermatologie, CHU Mongi-Slim, La Marsa, Tunisie. Samia-goucha@rns.tn

Annales De Dermatologie Et De Venereologie
|June 23, 2000
PubMed
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The rare GAPO syndrome, characterized by Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy, presents unique features in a Tunisian patient. This case highlights unusual skin depigmentation and vascular abnormalities, expanding the known clinical spectrum of this genetic disorder.

Area of Science:

  • Genetics
  • Rare Diseases
  • Dermatology

Background:

  • GAPO syndrome is a rare genetic disorder with known manifestations: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
  • First described in 1947, only 24 cases have been documented globally.
  • This report details the first documented case in Tunisia.

Observation:

  • A 12-year-old boy presented with classic GAPO syndrome features.
  • He exhibited a peculiar facial appearance, umbilical hernia, and hemangiomatous neck plaques.
  • Distinctive splashed-pattern depigmented maculae were noted on the trunk and limb, alongside scalp vascular abnormalities.

Findings:

  • The Tunisian patient displayed classical GAPO syndrome manifestations.
  • Additionally, he presented with unique depigmented maculae, resembling incontinentia pigmenti achromians, a previously unreported association.

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  • Prominent scalp vein dilatation and vascular masses were also observed.

    • Implications:

    • This case expands the phenotypic spectrum of GAPO syndrome.
    • The association with incontinentia pigmenti achromians warrants further investigation into potential sharedPathogenesis.
    • Understanding the genetic basis and variations in GAPO syndrome is crucial for diagnosis and management.