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Pachyonychia Congenita, Type 1

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Definition

This is a form of Pachyonychia congenita, type 1: This is a form of pachyonychia congenita (elephant nails from birth) in which teeth are evident at birth. It is called the Jadassohn-Lewandowski syndrome.The characteristic features include:Abnormally thick curved nails (onychogryposis)Thickening of the skin (hyperkeratosis) of the palms, soles, knees andelbowsWhite plaques (leukoplakia) in the mouthExcess sweating (hyperhidrosis) of the hands and feetTeeth are already erupted at birth (natal teeth)Generation after generation in a family may show the syndrome. It is anautosomal dominant trait. The gene responsible for the syndrome is onchromosome 12 (in band 12q13) and a single copy of the gene (named PD1) iscapable of causing the disease. The basic abnormality is a mutation (change)in a gene for keratin, a primary constituent of nails, hair, and skin.Alternate names for the syndrome include pachyonychia congenita of theJadassohn-Lewandowski type and pachyonychia congenita with natal teeth. Thesyndrome is named for the professor of dermatology at the University ofBern in Switzerland, Josef Jadassohn (1860-1936), and his colleague, FelixLewandowski (1879-1921), who first described the syndrome in 1906. Abouttheir patient, a 15-year-old girl, they wrote: "The nail plates of all thefingers and toes are extremely thickened, and so hard that they cannot becut with a scissors; the father has to trim them with a hammer and chisel."


 

 

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