Vohwinkel syndrome
Encyclopedia
Vohwinkel syndome is a diffuse autosomal dominant keratoderma
with onset in early infancy characterized by a honeycombed keratoderma involving the palmoplantar surfaces. Mild to moderate sensorineural hearing loss is often associated.
It has been associated with GJB2
.
It was characterized in 1929.
Keratoderma
-Congenital:* Simple keratodermas** Diffuse palmoplantar keratodermas*** Diffuse epidermolytic palmoplantar keratoderma*** Diffuse nonepidermolytic palmoplantar keratoderma*** mal de Meleda** Focal palmoplantar keratoderma*** Striate palmoplantar keratoderma...
with onset in early infancy characterized by a honeycombed keratoderma involving the palmoplantar surfaces. Mild to moderate sensorineural hearing loss is often associated.
It has been associated with GJB2
GJB2
Gap junction beta-2 also known as connexin-26 is a protein that in humans is encoded by the GJB2 gene. Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1, also known as Connexin 26 deafness or GJB2-related deafness.- Function :Gap...
.
It was characterized in 1929.