Literature DB >> 1603745

Self-healing collodion baby: evidence for autosomal recessive inheritance.

E Frenk1, F de Techtermann.   

Abstract

Five spontaneously healing collodion babies were recorded in a large Swiss kindred. They all had consanguineous parents. Their distribution in the family indicates autosomal recessive inheritance. At birth they had the typical features of collodion babies. The collodion-like membrane was shed within the first month, leaving a slightly scaly skin for a few weeks. Thereafter the skin remained normal without any evidence of a disorder of cornification.

Mesh:

Year:  1992        PMID: 1603745     DOI: 10.1111/j.1525-1470.1992.tb01221.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  5 in total

Review 1.  Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Authors:  Matthew L Herman; Sharifeh Farasat; Peter J Steinbach; Ming-Hui Wei; Ousmane Toure; Philip Fleckman; Patrick Blake; Sherri J Bale; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

2.  [The ichthyoses. Pathophysiological models of epidermal differentiation].

Authors:  D Hohl; M Huber
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

3.  Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Authors:  J Fischer; A Faure; B Bouadjar; C Blanchet-Bardon; A Karaduman; I Thomas; S Emre; S Cure; M Ozgüc; J Weissenbach; J F Prud'homme
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

4.  Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein.

Authors:  P J Koch; P A de Viragh; E Scharer; D Bundman; M A Longley; J Bickenbach; Y Kawachi; Y Suga; Z Zhou; M Huber; D Hohl; T Kartasova; M Jarnik; A C Steven; D R Roop
Journal:  J Cell Biol       Date:  2000-10-16       Impact factor: 10.539

5.  Acral self-healing collodion baby: A case series.

Authors:  Bruno Ferrari; Juan Pablo Martínez; Paula Carolina Luna; Margarita Larralde
Journal:  Int J Womens Dermatol       Date:  2016-11-09
  5 in total

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