H Syndrome: A New Genodermatosis with Distinct Features

H syndrome (HS) is a recently described genodermatosis (inherited skin condition) characterized by progressive sclerodermatous thickening of the skin, with overlying hyperpigmentation and hypertrichosis. It primarily affects the thighs, with variable involvement of the genitalia, lower trunk, and limbs. Systemic findings of hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism and low height give H syndrome its name. These authors review the cases of 10 patients (age range, 11–36; 9 male) seen over 24 years to detail the histologic, immunohistochemical, and ultrastructural findings of cutaneous HS.

Clinical manifestations included hyperpigmented and hypertrichotic skin thickening of the lower abdomen, lower back, genitalia, legs, a…