שאלה משלב א׳ במחלות עור ומין · מועד 2025, שאלה 21

H SYNDROME (SLC29A3 mutation) includes sensorineural HEARING LOSS, together with the other Hs - hyperpigmented, HYPERTRICHOTIC indurated plaques (usually on the thighs and shins), hepatosplenomegaly, heart anomalies, hypogonadism, hyperglycaemia/diabetes, hallux valgus and flexion contractures, and SHORT stature (not high stature). The plaques are hyperpigmented and hairy rather than hypopigmented or alopecic.

מקור: בולוניה711 )