pachyonychia congenita

Classification: - pachyonychia congenita type 1 - pachyonychia congenita type 2 Genetics: - autosomal dominant - associated with defects in KRT6A, KRT6B Clinical manifestations: - thickening of the nails - hyperkeratosis on hands & feet - oral lesions that look like thick white plaques

Specific

pachyonychia congenita type 1 (Jadassohn-Lewandowsky syndrome) pachyonychia congenita type 2 (Jackson-Lawler type)

General

genetic disease of the skin (genodermatosis) congenital nail anomaly

References

Wikipedia: Pachyonychia congenita http://en.wikipedia.org/wiki/Pachyonychia_congenita