De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.
congenital cutis laxa
de barsy syndrome
progeroid feature
rare autosomal recessive disorder
rare genetic disorder
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
accepted:
02
01
2023
entrez:
6
2
2023
pubmed:
7
2
2023
medline:
7
2
2023
Statut:
epublish
Résumé
De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. Typically, the skin loses its elasticity, causing laxity, wrinkling, and sagging. Other characteristics include ophthalmological, orthopedic, and neurological abnormalities. As of 2011, only 27 DBS cases had been recorded. This paper reports the case of a two-day-old female infant who was referred to the pediatrics department with complaints of lax skin, a progeroid appearance, a short stature, hazy corneas, and bilateral claw-like hands with thin overlapping fingers. She also had features of pectus excavatum and visible veins over her chest and abdomen. There was a history of third-degree consanguineous parents in this patient. This patient was diagnosed with De Barsy syndrome due to findings on the Verhoeff Van Gieson staining, which demonstrated a marked decrease in elastic tissue fibers. Palliative care was recommended for this infant. We report this case considering its extreme rarity.
Identifiants
pubmed: 36741656
doi: 10.7759/cureus.33280
pmc: PMC9892606
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e33280Informations de copyright
Copyright © 2023, Srimeghana et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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