Literature DB >> 8340514

Congenital absence of dermatoglyphs.

M Límová1, K L Blacker, P E LeBoit.   

Abstract

Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome.

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Mesh:

Year:  1993        PMID: 8340514     DOI: 10.1016/0190-9622(93)70195-y

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  5 in total

1.  A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

Authors:  Janna Nousbeck; Bettina Burger; Dana Fuchs-Telem; Mor Pavlovsky; Shlomit Fenig; Ofer Sarig; Peter Itin; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2011-08-04       Impact factor: 11.025

2.  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

3.  Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Authors:  Ming Li; Jianbo Wang; Zhenlu Li; Jia Zhang; Cheng Ni; Ruhong Cheng; Zhirong Yao
Journal:  Eur J Hum Genet       Date:  2016-03-02       Impact factor: 4.246

4.  Acropigmentation of Kitamura with immigration delay disease: A rare entity.

Authors:  Sumir Kumar; Bharat Bhushan Mahajan; Nidhi Kamra; Pritish A Bhoyar
Journal:  Indian Dermatol Online J       Date:  2015 May-Jun

5.  Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family.

Authors:  Youssef Elhaji; Tessa M A van Henten; Claudia A L Ruivenkamp; Mathew Nightingale; Gijs We Santen; Lydia E Vos; Peter R Hull
Journal:  JID Innov       Date:  2021-05-06
  5 in total

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