Publications by authors named "V Oji"
Article Synopsis
- Monilethrix is a rare genetic hair disorder characterized by fragile hair with a beaded structure and potential keratosis pilaris or nail issues, linked to mutations in specific genes (KRT81, KRT83, KRT86 for dominant forms; DSG4 for recessive).
- This study aimed to uncover new genetic mutations in families with unexplained cases of autosomal-dominant monilethrix and to explore how these variants disrupt cell function.
- Through exome sequencing, researchers identified a significant mutation (c.1081G>T) in the KRT31 gene that affects keratin production, resulting in altered protein structure and function, confirmed through various laboratory techniques.
Article Synopsis
- The study identified a new gene variant in NKPD1 linked to generalized lamellar ichthyosis among a family, enhancing the understanding of genetic factors in skin disorders.
- This variant was confirmed to segregate with the disease in affected individuals, providing strong genetic evidence for its involvement.
- Findings revealed NKPD1's potential role in skin lipid barrier formation and ceramide metabolism, differing from the previously known ASPRV1 association with autosomal dominant lamellar ichthyosis.
Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare skin disorder marked by red patches and thickened skin plaques, usually inherited in an autosomal dominant pattern.
- Traditionally, EKV was linked to mutations in connexin genes, but recent findings show other rare gene mutations can also cause the condition.
- A study of seven patients with an EKV-like appearance found they had mutations linked to autosomal recessive congenital ichthyosis (ARCI), suggesting that ARCI should be considered when diagnosing EKV.
Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting.
J Eur Acad Dermatol Venereol
September 2024
Background: Patients with inherited ichthyosis suffer from scaling due to mutations affecting the epidermal barrier. Symptomatic treatment with ointments, bathing and mechanical scale removal can alleviate the disease, but therapy is time and cost intensive.
Objectives: We investigated costs, time and disease burden of ichthyoses.
Atopic dermatitis (AD) and psoriasis belong to the most common inflammatory dermatoses that we treat in everyday clinical practice. AD manifests in more than 70% of cases before the age of 5 years. Approximately one-third of psoriasis patients report on onset of disease in the first two decades of life.
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