Congenital isolated onychodysplasiaL60.3

Isolated congenital onychodysplasia (NDNC7), is characterized by longitudinal striation, thinning and a disturbed formation of the nail plates. In most cases, all fingernails and toenails are affected, with changes in the thumb and big toe nails being particularly prominent. The most characteristic result is a conspicuous reddish dome-shaped protrusion of the proximal nail plate, from which longitudinal ribs start. A mutation of a gene located on chromosome 17p13 is assumed (Krebsova A et al. 2000).

Hamm et al. (2000) published anamnesis and clinical features of 22 affected family members (13 women and 9 men aged 5 to 74 years) over 5 consecutive generations. An autosomal dominant inheritance was assumed. The affected persons showed thinning of the nail plates, longitudinal stripes with lateral folds and notches as well as occasionally angularly elevated nail plates. Preferably affected were thumbnails and the nails of the big toes. The lunulae were only discretely developed. Furthermore platonychia and koilonychia of single nails.

1. Hamm H et al (2000) Isolated congenital nail dysplasia: a new autosomal dominant condition. Arch derm 136: 1239-1243
2. Krebsova A et al (2000) Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Derm 115: 664-667