Naxos syndrome
Encyclopedia
Naxos syndrome is a cutaneous condition characterized by a palmoplantar keratoderma
. The prevalence of the syndrome is about 1 person in 1000 in the Hellenic islands.
It has been associated with mutations in the genes encoding desmoplakin
and plakoglobin
.
Palmoplantar keratoderma
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soleAutosomal recessive and dominant, X-linked, and acquired forms have all been described.There are also acquired forms of the condition....
. The prevalence of the syndrome is about 1 person in 1000 in the Hellenic islands.
It has been associated with mutations in the genes encoding desmoplakin
Desmoplakin
Desmoplakin is a protein associated with desmosomes.Desmoplakin is a protein that in humans is encoded by the DSP gene. The C-terminus of desmoplakin binds with intermediate filaments. These are further sub divided to three homologous Plakin repeat domains . In the mid-region of desmoplakin, a...
and plakoglobin
Plakoglobin
Junction plakoglobin, also known as gamma-catenin or JUP, is a protein that in humans is encoded by the JUP gene.- Function :...
.