AI Article Synopsis
- Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a rare genetic disorder caused by mutations in the DSG1 or sometimes the DSP gene, following an autosomal recessive inheritance pattern.
- The condition typically manifests as treatment-resistant severe dermatitis starting in the early postnatal period.
- A case report details a 5-month-old male with SAM syndrome featuring a specific mutation in the DSG1 gene and an unusual associated condition of pulmonary stenosis.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/pde.15811 | DOI Listing |
Publication Analysis
Top Keywords
sam syndrome
12
severe dermatitis
8
dsg1 gene
8
syndrome presenting
4
presenting pulmonary
4
pulmonary stenosis
4
stenosis a case
4
a case report
4
report literature
4
literature review
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!