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Pachyonychia congenita of the Jadassohn-Lewandowski type: This is a type ofpachyonychia congenita (elephant nails from birth).
The characteristic features include:
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 with natalteeth and type 1 pachyonychia congenita. The syndrome is named for theprofessor of dermatology at the University of Bern in Switzerland, JosefJadassohn (1860-1936), and his colleague, Felix Lewandowski (1879-1921),who first described the syndrome in 1906. About their patient, a 15-year-oldgirl, they wrote: The nail plates of all the fingers and toes are extremelythickened, and so hard that they cannot be cut with a scissors the fatherhas to trim them with a hammer and chisel.