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Inherited acrokeratoelastoidosis is classified as a form of inherited punctate palmoplantar keratoderma (PPKP), specifically Type 3 PPKP, according to the classification of palmoplantar keratodermas (PPK). [10] Chromosome 2 appears to be the most likely locus responsible for inherited acrokeratoelastoidosis. [11]
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, [1] [2] is an autosomal recessive [3] genetic disorder caused by a deficiency in cathepsin C. [ 4 ] [ 5 ]
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described in medical literature. [1]: 505 [2]: 211 [3]
Quality of life can possibly can be decreased, therefore getting treatment is recommended. [6] Too much dry skin can be painful for some and cause discomfort. [ 8 ] There is limited data on the life expectancy of an affected person, but this disease alone does not reduce a person's lifespan.
Focal palmoplantar keratoderma. Striate palmoplantar keratoderma; Punctate palmoplantar keratoderma. Keratosis punctata palmaris et plantaris; Spiny keratoderma; Focal acral hyperkeratosis; Complex keratodermas Diffuse palmoplantar keratoderma. Erythrokeratodermia variabilis; Palmoplantar keratoderma of Sybert; Olmsted syndrome
Bart–Pumphrey syndrome (palmoplantar keratoderma with knuckle pads and leukonychia and deafness) Camisa disease; Carvajal syndrome (striate palmoplantar keratoderma with woolly hair and cardiomyopathy, striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy) Corneodermatoosseous syndrome (CDO syndrome)
Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly, acro-osteolysis and Cochin Jewish syndrome" [1]) is a skin disease caused, like Papillon–Lefèvre syndrome, by a mutation in the cathepsin C gene. [1] One of its features is thick curved finger and toenails. [2]
Naxos disease [1] (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" [1] or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr. Nikos Protonotarios [1]) is a cutaneous condition characterized by a palmoplantar keratoderma. [1]
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