Literature DB >> 8555039

Odonto-onycho-dermal dysplasia.

G M Zirbel1, M S Ruttum, A C Post, N B Esterly.   

Abstract

Odonto-onycho-dermal dysplasia is an ectodermal dysplasia (ED) described once previously in two families who exhibited atrophic malar patches, sparse hair, conical teeth, dystrophic nails and hyperkeratosis of the palms and soles. We describe a boy who developed a blistering malar rash soon after birth. When examined at 11 months, and then at 27 months of age, he had persistent atrophic malar plaques that reddened with heat. He also showed nail dystrophy, sparse hair, lingual concavity of the incisors, a bifid maxillary incisor, a five-cusped molar, and hyperhidrosis of the palms and soles. In addition he had chronic tearing, photophobia, blepharitis, and a mild keratitis. After reviewing EDs with atrophic or scar-like skin changes, we believe this child most resembles the patients with odonto-onycho-dermal dysplasia, although his eye findings are unique.

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Mesh:

Year:  1995        PMID: 8555039     DOI: 10.1111/j.1365-2133.1995.tb02761.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  4 in total

1.  WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Authors:  Axel Bohring; Thomas Stamm; Christiane Spaich; Claudia Haase; Kerstin Spree; Ute Hehr; Mandy Hoffmann; Susanne Ledig; Saadettin Sel; Peter Wieacker; Albrecht Röpke
Journal:  Am J Hum Genet       Date:  2009-06-25       Impact factor: 11.025

2.  Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Authors:  Lynn Adaimy; Eliane Chouery; Hala Megarbane; Salman Mroueh; Valerie Delague; Elsa Nicolas; Hanen Belguith; Philippe de Mazancourt; Andre Megarbane
Journal:  Am J Hum Genet       Date:  2007-08-09       Impact factor: 11.025

Review 3.  Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

Authors:  Wen Qian; Meijie Zhang; Hequn Huang; Yihe Chen; Gajin Park; Ni Zeng; Yueyue Li; Qian Lu; Dan Luo
Journal:  Mol Genet Genomic Med       Date:  2021-05-01       Impact factor: 2.183

4.  Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

Authors:  Anne Bruun Krøigård; Ole Clemmensen; Hans Gjørup; Jens Michael Hertz; Anette Bygum
Journal:  BMC Dermatol       Date:  2016-03-10
  4 in total

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