Naxos syndrome

Naxos syndrome
Naxos syndrome
Classification and external resources

Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.
OMIM 601214

Naxos syndrome (also known as "Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy,"[1] "Diffuse palmoplantar keratoderma with woolly hair and arrythmogenic right ventricular cardiomyopathy firstly described in Naxos island by Dr Nikos Protonotarios,"[1] and "Naxos disease"[1]) is a cutaneous condition characterized by a palmoplantar keratoderma.[1] 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.[2]

See also

References

  1. ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ McKoy G, Protonotarios N, Crosby A, et al. (June 2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet 355 (9221): 2119–24. doi:10.1016/S0140-6736(00)02379-5. PMID 10902626. http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(00)02379-5. 
v · d · eCytoskeletal defects
Microfilaments
Other
Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)
IF
1/2
3
4
5
Microtubules
Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
Other
Tauopathy · Cavernous venous malformation
Membrane
Catenin
Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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