Simple congenital anonychia in an Iranian family

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 Although being less reported, there are reports of an autosomal dominant inheritance pattern, particularly when there is only thumb disease. 2,6 In our case, we assumed an autosomal dominant inheritance, since we had four sequential generations affected and involvement of both sexes.…”

Anonychia congenita in different generations of a single Saudi family

“…9 Nevertheless, there are few other reported cases in Turkey, Russia, Great Britain, United States of America, Holland, Brazil, Iran, India, Kazakhstan, Lebanon, Kuwait, Finland, and in Germany. 3,6,[10][11][12][13] In KSA, it has been reported in a single patient and in 2 members of the same generation in another family. 10,14 The 3 patients in this study had complete anonychia as an isolated and asymptomatic condition which marks them as one of the rare reported cases in Saudi Arabia, as its running in different generations of a single family.…”