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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 ]
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.
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]
Most of the signs of Haim–Munk syndrome begin to manifest during the first 2–4 years of life. [5] Commons signs at this stage are thickening and scaling of the skin of the palms, soles (palmoplantar keratoderma) and elbows, and shedding of the primary dentition caused by recurrent episodes of dental caries and periodontitis.
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Acrokeratoelastoidosis of Costa or Acrokeratoelastoidosis is a hereditary form of marginal keratoderma, and can be defined as a palmoplantar keratoderma.It is distinguished by tiny, firm pearly or warty papules on the sides of the hands and, occasionally, the feet.
Simple keratodermas Diffuse palmoplantar keratodermas. Diffuse epidermolytic palmoplantar keratoderma; Diffuse nonepidermolytic palmoplantar keratoderma; mal de Meleda; Focal palmoplantar keratoderma. Striate palmoplantar keratoderma; Punctate palmoplantar keratoderma. Keratosis punctata palmaris et plantaris; Spiny keratoderma; Focal acral ...
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]