Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab.

Autor:	Flowers, Lauren E., Dyer, Jonathan A., Eisenstein, Kimberly A.
Předmět:	CONGENITAL heart disease GENETIC mutation INTELLECTUAL disabilities TREATMENT effectiveness DUPILUMAB
Zdroj:	Pediatric Dermatology; Nov2024, Vol. 41 Issue 6, p1166-1169, 4p
Abstrakt:	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal recessive neuroectodermal disorder caused by PIGL gene mutations. There is emerging literature to support the use of interleukin‐17 (IL‐17) antagonists in the treatment of certain ichthyosiform dermatoses. Here, we report a case of severe ichthyosiform dermatosis in a child with CHIME syndrome who was recalcitrant to multiple topical medications and dupilumab. This is the first reported case of successful treatment of congenital ichthyosiform dermatosis in a CHIME syndrome patient with ixekizumab, an IL‐17A antagonist. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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