Orphanet: Generalized basaloid follicular hamartoma syndrome

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Generalized basaloid follicular hamartoma syndrome

Disease definition

Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.


  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q82.5
  • OMIM: 605827
  • UMLS: C1853919
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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