Ichthyosis, petechiae, and arthrogryposis in a neonate.

Autor: Haller CN; Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA., Paladichuk H; Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA., Ziats CA; Division of Genetics, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.; Dell Children's Medical Center, Austin, Texas, USA., Buchanan CA; Division of Genetics, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.; Dell Children's Medical Center, Austin, Texas, USA., Diaz LZ; Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA.; Dell Children's Medical Center, Austin, Texas, USA.; Division of Pediatric Dermatology, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2023 Mar; Vol. 40 (2), pp. 352-354. Date of Electronic Publication: 2022 Nov 05.
DOI: 10.1111/pde.15169
Abstrakt: Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare and challenging to diagnose. We present a case of a newborn girl with ichthyosis, petechiae, and arthrogryposis, later found to be homozygous for a pathogenic variant of the glucocerebrosidase gene. This case highlights the potential role of dermatologists in the recognition of this rare disease.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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