Terminology Service for NFDI4Health

Generalized basaloid follicular hamartoma syndrome (disorder)

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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, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.

A rare genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured 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, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.

Term info

Label

Generalized basaloid follicular hamartoma syndrome (disorder)

Synonyms
  • Generalised basaloid follicular hamartoma syndrome
  • Generalized basaloid follicular hamartoma syndrome
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