Literature DB >> 1303619

Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance.

W L Heimer1, G Brauner, W D James.   

Abstract

Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Only 10 cases have been described in the world literature to date, and no clear inheritance pattern has been demonstrated. We present a patient with the classic features of the dermatopathia pigmentosa reticularis triad, along with adermatoglyphia, hypohidrosis, and punctate hyperkeratosis of the palms and soles. A family pedigree demonstrates the autosomal dominant inheritance of dermatopathia pigmentosa reticularis.

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Year:  1992        PMID: 1303619     DOI: 10.1016/0190-9622(92)70039-i

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


  7 in total

1.  Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Authors:  Jennie Lugassy; Peter Itin; Akemi Ishida-Yamamoto; Kristen Holland; Susan Huson; Dan Geiger; Hans Christian Hennies; Margarita Indelman; Dani Bercovich; Jouni Uitto; Reuven Bergman; John A McGrath; Gabriele Richard; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2006-08-25       Impact factor: 11.025

2.  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

3.  A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.

Authors:  Rabia Habib; Muhammad Ansar; Manuel Mattheisen; Muhammad Shahid; Ghazanfar Ali; Wasim Ahmad; Regina C Betz
Journal:  PLoS One       Date:  2015-06-26       Impact factor: 3.240

4.  Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

Authors:  Bela J Shah; Ashish K Jagati; Neha P Gupta; Suyog S Dhamale
Journal:  Indian Dermatol Online J       Date:  2015 Nov-Dec

5.  Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder.

Authors:  Vinay Shanker; Mudita Gupta
Journal:  Indian Dermatol Online J       Date:  2013-01

6.  Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review.

Authors:  Fahad Al Saif
Journal:  Indian J Dermatol       Date:  2016 Jul-Aug       Impact factor: 1.494

Review 7.  Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Authors:  Michele Callea; Diego Martinelli; Francisco Cammarata-Scalisi; Chiara Grimaldi; Houweyda Jilani; Piercesare Grimaldi; Colin Eric Willoughby; Antonino Morabito
Journal:  Genes (Basel)       Date:  2022-03-11       Impact factor: 4.096

  7 in total

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