Anonychia with flexural pigmentation

Definition

A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.

Disease data

Classification

Malformation syndrome

ORPHA code

69125

OMIM code

106750

ICD10 code

ICD11 code

*Soruce