Expanding the spectrum of γ‐secretase gene mutation‐associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata

Abstract excerpt

Hidradenitis suppurativa (HS) and acne conglobata (AC) are well-described chronic inflammatory diseases of cutaneous follicular occlusion 1, 2. HS is characterized by painful comedo-like lesions in the apocrine sweat or sebaceous glands 3, 4, while AC is characterized by interconnecting abscesses on the trunk, buttocks, upper arms, thighs and face 5. Although multiple treatment modalities are used for HS and AC,...

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