Pachyonychia Congenita, Autosomal Recessive

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

KRT17, KRT16, KRT6A, KRT6B, KRT10, KRT6C, KRT80, SLURP1, PNOC, NFE2L2, AQP5, FLG, KRT1, KLKB1, GJB2, GABPA, MTOR, KRT9

Drugs

Sirolimus ( RAPAMUNE ), Synthetic double-stranded siRNA oligonucleotide directed against the keratin 6a N171K mutation

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For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200.

Inheritance

Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985).