Pachyonychia Congenita, Autosomal Recessive

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


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).