Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Details
Serval ID
serval:BIB_40E5D9C7B398
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Journal
Pediatric dermatology
ISSN
1525-1470 (Electronic)
ISSN-L
0736-8046
Publication state
Published
Issued date
07/2022
Peer-reviewed
Oui
Volume
39
Number
4
Pages
590-593
Language
english
Notes
Publication types: Case Reports
Publication Status: ppublish
Publication Status: ppublish
Abstract
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan» c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.
Keywords
Alopecia, Cholangitis, Sclerosing/complications, Cholangitis, Sclerosing/diagnosis, Cholangitis, Sclerosing/genetics, Claudin-1/deficiency, Claudin-1/genetics, Humans, Ichthyosis/complications, Ichthyosis/diagnosis, Ichthyosis/genetics, Ichthyosis, Lamellar/complications, Infant, Newborn, Leukocyte Disorders/complications, Leukocyte Disorders/genetics, Syndrome, CLDN1, NISCH syndrome, ichthyosis, neurodevelopmental, sclerosing cholangitis
Pubmed
Web of science
Create date
31/03/2022 21:03
Last modification date
25/02/2023 7:46
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