Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

CASE REPORT

Year : 2019 \| Volume : 37 \| Issue : 3 \| Page : 150-153

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B Evren Gumus Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey Correspondence Address: Dr. Evren Gumus Department of Medical Genetics, Faculty of Medicine, University of Harran, 630 00 Sanliurfa Turkey Source of Support: None, Conflict of Interest: None DOI: 10.4103/ds.ds_35_18

Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses. Here, we report a novel homozygous mutation in ALOX12B in two siblings with autosomal recessive congenital ichthyosis. We aimed to evaluate two brothers' genotype-phenotype association in the light of the last nomenclature information.



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