Literature DB >> 8151643

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

J C Ramer1, D B Vasily, R L Ladda.   

Abstract

A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.

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Year:  1994        PMID: 8151643      PMCID: PMC1049604          DOI: 10.1136/jmg.31.1.68

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  [KERATOSIS PALMARIS ET PLANTARIS WITH CONGENITAL DEAFNESS AND TOTAL LEUKONYCHIA].

Authors:  J SCHWANN
Journal:  Dermatologica       Date:  1963

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

Authors:  E F Crosby; R H Vidurrizaga
Journal:  Johns Hopkins Med J       Date:  1976-12

3.  Knuckle pads in children.

Authors:  A S Paller; A A Hebert
Journal:  Am J Dis Child       Date:  1986-09

4.  Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome.

Authors:  R S Bart; R E Pumphrey
Journal:  N Engl J Med       Date:  1967-01-26       Impact factor: 91.245

  4 in total
  4 in total

1.  A family with leukonychia totalis.

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

2.  GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Authors:  Sandra Iossa; Elio Marciano; Annamaria Franzé
Journal:  Curr Genomics       Date:  2011-11       Impact factor: 2.236

Review 3.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

Review 4.  Leukonychia: What Can White Nails Tell Us?

Authors:  Matilde Iorizzo; Michela Starace; Marcel C Pasch
Journal:  Am J Clin Dermatol       Date:  2022-02-02       Impact factor: 7.403

  4 in total

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