Literature DB >> 9649680

Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification.

S Giustini1, B Amorosi, C Canci, G Camplone, U Bottoni, R Porciello, S Calvieri.   

Abstract

Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.

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Year:  1998        PMID: 9649680

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  1 in total

1.  A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.

Authors:  Yue Li; Yumeng Wang; Yan Ming; Pan Chaolan; Zhang Jia; Ni Cheng; Cao Qiaoyu; Ming Li; Xu Tianyi
Journal:  BMC Med Genomics       Date:  2021-11-01       Impact factor: 3.063

  1 in total

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