Acrokeratosis verruciformis (also known as Acrokeratosis verruciformis of Hopf) is a rare autosomal dominant disorder appearing at birth or in early childhood characterized by skin lesions that are small verrucous […]
List of articles in "Disease" category - Page 120
Tooth and nail syndrome
Tooth and nail syndrome (also known as Hypodontia with nail dysgenesis and Witkop syndrome) is a rare disorder first described in 1965 characterized by nails that are thin small and […]
Connective tissue neoplasm
A connective tissue neoplasmconnective tissue tumor is a neoplasm arising from the tissues of the connective tissue. (Not all tumors in the connective tissue are of the connective tissue.)
Rapp–Hodgkin syndrome
Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However it was recently shown to the same disease as Hay-Wells syndrome. […]
Schöpf–Schulz–Passarge syndrome
Schöpf–Schulz–Passarge syndrome (also known as Eyelid cysts palmoplantar keratoderma hypodontia and hypotrichosis) is an autosomal recessive condition with diffuse symmetric palmoplantar keratoderma with the palmoplantar keratoderma and fragility of the […]
Corneodermatoosseous syndrome
Corneodermatosseous syndrome (also known as CDO syndrome) is an autosomal dominant condition with onset in infancy characterized by corneal dystrophy photophobia diffuse palmoplantar keratoderma distal onycholysis skeletal abnormalities with brachydactyly […]
Naxos syndrome
Naxos syndrome (also known as Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy Diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy firstly described in Naxos island […]
Tyrosinemia type II
Tyrosinemia type II (Oculocutaneous tyrosinemia Richner-Hanhart syndrome) is an autosomal recessive condition with onset between ages 2 and 4 years when painful circumscribed calluses develop on the pressure points of […]
Clouston’s hidrotic ectodermal dysplasia
Clouston’s hidrotic ectodermal dysplasia (also known as Alopecia congenita with keratosis palmoplantaris Clouston syndrome Fischer–Jacobsen–Clouston syndrome Hidrotic ectodermal dysplasia Keratosis palmaris with drumstick fingers and Palmoplantar keratoderma and clubbing) is […]
Trichoepithelioma
Trichoepithelioma is a neoplasm of the adnexa of the skin. Its appearance is similar to basal cell carcinoma.One form has been mapped to chromosome 9p21.