Year: 2024
Type: article
Study design: Case Report
Abstract: Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a rare genetic disorder that can arise due to mutations in the desmoglein 1 (DSG1) gene and sometimes in the desmoplakin (DSP) gene and is characterized by an autosomal recessive inheritance pattern. Severe dermatitis in most cases is treatment resistant and usually starts in the early postnatal period. Herein, we report a 5-month-old male with SAM syndrome that had a homozygous missense variant in exon 8 of the DSG1 gene with c.909G>C (p.Trp303Cys) and presented with pulmonary stenosis-a rare associated finding.
Source: Pediatric Dermatology
DOI: 10.1111/pde.15811
Authors: Batuhan Kerem Balan, Sibel Ersoy‐Evans, Emel Isıyel, Dursun Alehan
Institution: Hacettepe University
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4405141860