" /> H syndrome - CISMeF





Preferred Label : H syndrome;

ICD-11 definition : H syndrome is a genodermatosis due to mutations of the SLC29A3 gene and is 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.;

Détails


Vous pouvez consulter :

H syndrome is a genodermatosis due to mutations of the SLC29A3 gene and is 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.

Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.