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Related Experiment Videos

Rapp-Hodgkin syndrome.

Gene Kim1, Helen Shin

  • 1Ronald O. Perelman Department of Dermatology, New York University, USA.

Dermatology Online Journal
|March 8, 2005
PubMed
Summary
This summary is machine-generated.

Rapp-Hodgkin syndrome, a TP63-related disorder, can cause brittle nails and cleft palate. This case highlights ectodermal dysplasia with clefting, emphasizing the TP63 gene

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Ectodermal dysplasias (EDs) are a group of genetic disorders affecting ectodermal structures.
  • Cleft palate is a common congenital anomaly that can occur in isolation or as part of a syndrome.
  • TP63 gene mutations are associated with various EDs, including those with clefting.

Observation:

  • A 5-year-old boy presented with brittle nails, a bifid uvula, and submucosal cleft palate.
  • Physical examination revealed characteristic features of ectodermal dysplasia: cup-shaped ears, broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy.

Findings:

  • The patient's clinical presentation was consistent with Rapp-Hodgkin syndrome.
  • Rapp-Hodgkin syndrome is an allelic disorder linked to mutations in the TP63 gene.

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Implications:

  • This case underscores the importance of recognizing ectodermal dysplasia with cleft palate phenotypes.
  • Understanding the spectrum of TP63-associated disorders is crucial for accurate diagnosis and genetic counseling.
  • Further research into TP63-related ectodermal dysplasias can improve patient management and outcomes.