Literature DB >> 33486784

Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.

Lula María Nieto-Benito1, Irene Molina-López1, Marta Feito-Rodríguez2, Víctor Martínez-González3, Ricardo Suárez-Fernández1, Minia Campos-Dominguez1,4,5.   

Abstract

Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.
© 2021 Wiley Periodicals LLC.

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Keywords:  Basan syndrome; adermatoglyphia; ectodermal dysplasia; genodermatosis

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Year:  2021        PMID: 33486784     DOI: 10.1111/pde.14512

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


  1 in total

1.  Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

Authors:  Ying Xiong; Ting Chen; Jia Yu; He Zhou; Baozhen Lu; Lijie Chen; Liwei Sun; Can Wang; Sujun Li; Bo Wu
Journal:  Dis Markers       Date:  2022-05-10       Impact factor: 3.464

  1 in total

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