A Newborn With Restrictive Dermatopathy: A Case Report
Ruken Yıldız Cengiz1
, Sabahattin Ertuğrul2, Selahattin Tekeş3, Sibel Tanrıverdi Yılmaz2, Bilal Sula4
1Dicle University School Of Medicine, Department of Pediatrics, Diyarbakır, Türkiye
2Dicle University School of Medicine, Department Of Pediatrics Division Of Neonatology, Diyarbakır, Türkiye
3Dicle University School of Medicine, Department Of Medical Genetics, Diyarbakır, Türkiye
4Dicle University School of Medicine, Department Of Dermatology, Diyarbakır, Türkiye
Keywords: Restrictive dermatopathy, mutation, contracture
Abstract
Restrictive dermatopathy (RD) is an extremely rare restrictive skin disease with autosomal recessive genetic transmission. It shows typical features on physical examination that arouse strong suspicion in the neonatal period. It characteristically manifests with transparent, thin, tense skin with easily distinguishable capillary superficial skin vessels, as well as flexion deformities in extremities due to skin restriction. Our patient, who had clinical signs of restrictive dermatopathy, had a homozygous c.1105C>T mutation in exon 9 on the ZMPSTE24 gene. Her father and mother had no clinical signs of the disease and had a heterozygous mutation on the same gene. Our patient is the the patient with have the mutation in the literature so far.
Cite this article as: Cengiz RY, Ertugrul S, Tekes S, Tariverdi Yilmaz S, Sula B. A Newborn With Restrictive Dermatopathy: A Case Report. Pediatr Acad Case Rep. 2024;3(2):24-7.
The parents’ of this patient consent was obtained for this study.
The authors declared no conflicts of interest with respect to authorship and/or publication of the article.
The authors received no financial support for the research and/or publication of this article.