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Related Experiment Videos

[Rapp-Hodgkin's syndrome: two cases].

I Plottova-Puech1, C Vidal, W Godard

  • 1Service de Dermatologie, CHU de Saint-Etienne, Hôpital Nord, 42055 Saint-Etienne Cedex 2.

Annales De Dermatologie Et De Venereologie
|May 15, 2003
PubMed
Summary

Rapp-Hodgkin ectodermal dysplasia is a rare genetic disorder affecting hair, nails, teeth, and sweat glands. Early diagnosis and follow-up are crucial to manage complications of this congenital condition.

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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Rapp-Hodgkin ectodermal dysplasia is a rare, predominantly hereditary congenital disorder.
  • First described in 1968, it involves dysplastic hair, nails, hypodontia, hypohidrosis, oral clefting, and maxillary hypoplasia.
  • Over 40 cases have been reported, enhancing understanding of this condition.

Observation:

  • Two new cases of Rapp-Hodgkin ectodermal dysplasia are presented.
  • A 4-year-old boy exhibited scalp dermatitis, coarse hair, onychodysplasia, skin atrophy, craniofacial anomalies (bifid uvula), and anhidrosis.
  • The father showed similar, less pronounced, and segmentally distributed features, suggesting potential mosaicism.

Findings:

  • The study identifies two new cases of Rapp-Hodgkin ectodermal dysplasia.

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  • Mosaicism is suspected in the father, possibly representing a sporadic familial case.
  • Discreet forms of the disorder are often misdiagnosed.

    • Implications:

    • Accurate description of this rare disease aids in diagnosis.
    • Early diagnosis facilitates timely follow-up and prevention of complications.
    • Understanding mosaicism broadens the spectrum of presentation for ectodermal dysplasias.