Orphanet: Schöpf Schulz Passarge syndrome

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Schöpf-Schulz-Passarge syndrome

Disease definition

Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


Classification level: Disorder
  • Synonym(s):
    • Eccrine tumors-ectodermal dysplasia
    • Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
    • SSPS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: Q82.8
  • OMIM: 224750
  • UMLS: C1857069
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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