Homozygous @entity71261 Nonsense Variant Identified in a @entity1 with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous XXXX : The Consequences of Skin Barrier Dysfunction.

@entity1 @entity12734 @entity8974 @entity1665 @entity37137 @entity4013 @entity4530 @entity71260 @entity364 @entity74 @entity978 @entity71261
Non-bullous @entity37137 (NBCIE) is a @entity74 caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. Targeted capture and next-generation sequencing was performed on NBCIE associated genes in the proband and his unaffected consanguineous parents. We identified a homozygous nonsense variant @entity71260 (p.Arg272*) in @entity71261 (NM_001165960.1) in the proband and discovered that his parents are both heterozygous carriers of the variant. The clinical manifestations of the proband's skin were consistent with NBCIE, and detailed histopathological assessment revealed @entity4530 formation and @entity978 . Infection with @entity12734 was confirmed by culture. The @entity1 responded to oral @entity8974 antifungal treatment. Decreased skin barrier function, such as that caused by @entity74 of keratinization, can increase the risk of severe cutaneous @entity364 and the formation of @entity978 and associated @entity1665 . @entity1 with NBCIE should be alerted to the possible predisposition for developing @entity4013 and warrant close clinical follow-up.
