Studija slučaja
Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Present- ing as Mild Nonbullous Congenital Ichthyosiform Erythroderma
Iva Hižar Gašpar
orcid.org/0000-0002-8300-4095
; Department of Paediatrics, Children’s Hospital Zagreb, Zagreb, Croatia
*
Arnes Rešić
; Department of Paediatrics, Children’s Hospital Zagreb, Zagreb, Croatia
Nives Pustišek
; Department of Paediatrics, Children’s Hospital Zagreb, Zagreb, Croatia
Ljubica Odak
; Department of Medical Genetics and Reproductive Health, Children’s Hospital Zagreb, Zagreb, Croatia;
* Dopisni autor.
Sažetak
Autosomal recessive congenital ichthyosis (ARCI) comprises a group of rare,
clinically heterogeneous disorders of keratinization, characterized by hyper-
keratosis, abnormal skin scaling, and a variable degree of erythroderma. Af-
fected infants are most often born encased in a collodion membrane, which
is usually shed within 2-4 weeks, revealing the underlying skin condition. To
date, at least 14 genes have been identified as causative for ARCI, and phe-
notypes associated with mutation of different genes may overlap. Herein we
report the case of an infant with ARCI due to heterozygous pathogenic muta-
tions in the 12(R)-lipoxygenase (ALOX12B) gene.
Ključne riječi
ichthyosis; nonbullous congenital ichthyosiform erythroderma; collodion baby; genetic diseases; neonatal desquamation
Hrčak ID:
334836
URI
Datum izdavanja:
20.6.2024.
Posjeta: 650 *