Generalized basaloid follicular hamartoma syndrome

Orpha code: 168632OMIM code: 605827

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.

Disease data
Classification

Disease

ORPHA code
168632
OMIM code
605827
ICD10 code
Q82.5
ICD11 code
-

No additional description.

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