[A case of oral-facial-digital syndrome (author's transl)].
1976
K Ogawa, and
S Nakazato, and
S Shiraishi, and
T Oya, and
Y Fujioka
UI
MeSH Term
Description
Entries
D007645
Keratoderma, Palmoplantar
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
Hyperkeratosis Palmaris et Plantaris,Keratosis Palmaris et Plantaris,Keratosis, Palmoplantar,Meleda Disease,Palmoplantar Keratoderma,Keratosis Palmoplantaris Transgradiens of Siemens,Mal de Meleda,Disease, Meleda,Keratodermas, Palmoplantar,Keratoses, Palmoplantar,Meleda, Mal de,Palmoplantar Keratodermas,Palmoplantar Keratoses,Palmoplantar Keratosis,de Meleda, Mal
D010214
Papillon-Lefevre Disease
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.