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Keratosis follicularis spinulosa decalvans

Disease definition

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

ORPHA:2340

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked recessive or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q82.8
  • OMIM: 308800  604093  612843
  • UMLS: C0343057
  • MeSH: C536159
  • GARD: 6829
  • MedDRA: -

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