Anonychia congenita in different generations of a single Saudi family

Abstract

Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia.

Congenital anonychia: A distinctive nail finding in a newborn

“…1 It is a rare condition, reported mainly in Southeast Asian countries. 2,3 To the best of our knowledge, there are only four European reports. 1,[4][5][6] Anonychia differs from hyponychia, which is the presence of a rudimentary nail or remnant of the nail.…”

“…Congenital anonychia consists of the absence of one or more nails since birth 1 . It is a rare condition, reported mainly in Southeast Asian countries 2,3 . To the best of our knowledge, there are only four European reports 1,4–6 .…”

“…Non‐syndromic anonychia means the absence of nails without other coexisting major congenital anomalies and is the rarest type 1,2,7 . Simple anonychia has mainly an autosomal recessive inheritance that has been assigned to chromosome 20p13 with a mutation in the R‐Spondin 4 gene 1,3,6,7 . This gene is related to crucial proteins in mesenchymal‐epithelial interactions and nail morphogenesis 8 .…”

“…1,2,7 Simple anonychia has mainly an autosomal recessive inheritance that has been assigned to chromosome 20p13 with a mutation in the R-Spondin 4 gene. 1,3,6,7 This gene is related to crucial proteins in mesenchymal-epithelial interactions and nail morphogenesis. 8 Although being less reported, there are reports of an autosomal dominant inheritance pattern, particularly when there is only thumb disease.…”