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Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Disease definition

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.

ORPHA:307936

  • Synonym(s):
    • HOPP syndrome
    • Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
    • Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
    • Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q82.8
  • OMIM: 607658
  • UMLS: C1843285
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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