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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]
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]
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]
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 ]
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]
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.