Congenital non-syndromic anonychia totalis with acroosteolysis

  title={Congenital non-syndromic anonychia totalis with acroosteolysis},
  author={Agrima Mian and Pankaj Jorwal},
  journal={BMJ Case Reports},
Key MethodA 15-year-old boy presented with a history of absence of fingernails and toenails since birth. He was the first born of a non-consanguineous marriage, delivered vaginally at term with normal birth weight. His mother admitted to excessive consumption of opioid analgesics (ethyl morphine derivatives) during all three trimesters of her first pregnancy, which she discontinued subsequently. He was otherwise healthy, with age-appropriate growth, development and intelligence. His parents and two…Expand
3 Citations
Anonychia congenita in different generations of a single Saudi family
3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia are reported. Expand
Nail changes in acro-osteolysis: A case report and review of the literature
Acro-osteolysis (synonym phalangeal osteolysis) refers to the resorption of one or more of the distal phalanges of the hands or feet.1 Two characteristic radiologic variants have been described, andExpand
Brachydactyly‐anonychia with congenital absent phalanges of the hand
A unified classification for transdiaphragmatic intercostal hernia and other costal margin injuries and properties of novel composite meshes in chest wall reconstruction: a comparative animal study is presented. Expand


Congenital anonychia affecting both little fingers-a “forme fruste” of cooks syndrome? A case report
  • 2016
Cooks syndrome is a hereditary disorder which is characterized by bilateral nail hypoplasia on the thumb, index and middle fingers, absence of fingernails (anonychia) on the ring finger and littleExpand
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases
This work reports two cases of partial hyponychia/anonychIA with underlying absent distal phalanges in both cases, and in addition hypoplastic/absent middle phalange in one of them. Expand
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
The RSPO4 gene is the first gene known to be responsible for an isolated, nonsyndromic nail disorder and put anonychia on the growing list of congenital malformation syndromes caused by Wnt-signaling-pathway defects. Expand