Literature DB >> 138007

Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: report of a family.

E F Crosby, R H Vidurrizaga.   

Abstract

A family is described in which knuckle pads, leukonychia, deafness, and keratosis palmoplantaris are present as a syndrome is several members. This is the second such family reported demonstrating that keratosis palmoplantaris is part of the syndrome. Inheritance pattern is probably autosomal dominant.

Entities:  

Mesh：

Year:  1976        PMID： 138007

Source DB:  PubMed          Journal:  Johns Hopkins Med J        ISSN： 0021-7263


  3 in total

1.  Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.

Authors:  Maija Kiuru; Mazen Kurban; Munenari Itoh; Lynn Petukhova; Yutaka Shimomura; Muhammad Wajid; Angela M Christiano
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

2.  A family with leukonychia totalis.

Authors:  Kamran Balighi; Fatemeh Moeineddin; Vahideh Lajevardi; Rajaee Ahmadreza
Journal:  Indian J Dermatol       Date:  2010       Impact factor: 1.494

3.  Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.

Authors:  J C Ramer; D B Vasily; R L Ladda
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318
  3 in total

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