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Genetic Disease
Comorbid Medical Issues in X-Linked Ichthyosis
X-linked ichthyosis (XLI) is a rare dermatological condition characterized by abnormal desquamation and retention hyperkeratosis (Fernandes et al., 2010). It is caused by deficiency of the enzyme steroid sulfatase (STS), most frequently arising from genetic deletions on the X chromosome (Fernandes et al., 2010). XLI overwhelmingly affects males, although female carriers of XLI-associated variants may exhibit dry skin (Fernandes et al., 2010).Insights into the Pathogenesis of NF1-Associated Neoplasms
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous genetic disorders, presenting with different cutaneous features such as café-au-lait macules, intertriginous skin freckling, and neurofibromas. Although most of the disease manifestations are benign, patients are at risk for a variety of malignancies, including malignant transformation of plexiform neurofibromas. Numerous studies have investigated the mechanisms by which these characteristic neurofibromas develop, with progress made toward unraveling the various players involved in their complex pathogenesis.Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family
Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kindreds worldwide. It is caused by variants in the skin-specific isoform of SMARCAD1, which starts with an alternative exon 1. All reported variants, except for one large deletion, are point mutations within the donor splice site of the alternative exon 1.Skin Microbiota and Clinical Associations in Netherton Syndrome
Netherton syndrome (NS) is a rare, life-threatening syndrome caused by serine protease inhibitor Kazal-type 5 gene (SPINK5) mutations, resulting in skin barrier defect, bacterial skin infections, and allergic sensitization in early childhood. Recent data on adult patients with NS suggest that the presence of Staphylococcus aureus further promotes barrier disruption and skin inflammation. We analyzed the skin microbiota by shotgun sequencing in 12 patients with NS from eight Finnish families with healthy family controls as the reference and correlated the findings with allergen-specific IgE prevalence, immune cell phenotype, and infection history of the patients.
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