Literature DB >> 7899187

Epidermolysis bullosa simplex associated with muscular dystrophy: a new case.

A Patrizi1, V Di Lernia, I Neri, L Badiali De Giorgi, M Masi.   

Abstract

We report an infant with a rare form of epidermolysis bullosa simplex characterized by an autosomal recessive pattern of inheritance, severe cutaneous involvement, oral and nail lesions, associated with muscular dystrophy, and a poor prognosis, due to extracutaneous disease. In addition to the usual presentation of this disease, our patient had severe anemia, with immature circulating white cells, and bone marrow histology suggestive of a pre-leukemic state, a finding which has not before been reported in the literature.

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Year:  1994        PMID: 7899187     DOI: 10.1111/j.1525-1470.1994.tb00102.x

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


  2 in total

Review 1.  Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Authors:  Jana Kyrova; Lenka Kopeckova; Hana Buckova; Lenka Mrazova; Karel Vesely; Marketa Hermanova; Hana Oslejskova; Lenka Fajkusova
Journal:  J Dermatol Case Rep       Date:  2016-11-30

2.  Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Authors:  Lingjuan Liu; Lu Zhang; Peng Huang; Jie Xiong; Yangyang Xiao; Cheng Wang; Dingan Mao; Liqun Liu
Journal:  Front Pediatr       Date:  2022-06-27       Impact factor: 3.569

  2 in total

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