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Naxos disease
(also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy"
or "diffuse palmoplantar keratoderma with woolly hair and
arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy (ARVC), most commonly is an inherited heart disease.
ACM is caused by genetic defects of the parts of hea ...
", first described on the island of
Naxos
Naxos (; el, Νάξος, ) is a Greek island and the largest of the Cyclades. It was the centre of archaic Cycladic culture. The island is famous as a source of emery, a rock rich in corundum, which until modern times was one of the best abr ...
by Nikos Protonotarios
) is a cutaneous condition characterized by a
palmoplantar keratoderma
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Autosomal recessive, dominant, X-linked, and acquired forms have all been described.
Types
Cli ...
.
The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.
It has been associated with mutations in the genes encoding the proteins
desmoplakin
Desmoplakin is a protein in humans that is encoded by the ''DSP'' gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contact ...
,
plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic compone ...
,
desmocollin-2, and
SRC-interacting protein (SIP).
Naxos disease has the same cutaneous
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
as the
Carvajal syndrome
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Autosomal recessive, dominant, X-linked, and acquired forms have all been described.
Types
Cli ...
.
Symptoms
Between 80 and 99% of those with Naxos disease will display some of the following symptoms:
* Disease of the heart muscle
* Thickening of palms and soles
* Sudden increased heart rate
* Dizzy spells
* Kinked hair
See also
*
Olmsted syndrome
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Autosomal recessive, dominant, X-linked, and acquired forms have all been described.
Types
Cli ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
*
References
External links
Genodermatoses
Palmoplantar keratodermas
Syndromes
{{Dermatology-stub