Makale detayı · 2024
A Newborn With Restrictive Dermatopathy: A Case Report
Pediatric Academic Case Reports
- Yıl
- 2024
- ISSN
2822-6682- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
İngilizce (OpenAlex)
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.
Konular
- Nuclear Structure and Function
- RNA regulation and disease
- Parvovirus B19 Infection Studies
Birincil konu Nuclear Structure and Function