Dermatologica Sinica

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

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.


How to cite this article:
Gumus E. 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.Dermatol Sin 2019;37:150-153


How to cite this URL:
Gumus E. 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. Dermatol Sin [serial online] 2019 [cited 2020 Apr 6 ];37:150-153
Available from: http://www.dermsinica.org/article.asp?issn=1027-8117;year=2019;volume=37;issue=3;spage=150;epage=153;aulast=Gumus;type=0