research Semidominant Inheritance in Epidermolytic Ichthyosis
This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
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5 / 941 resultsresearch Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
This case study reports that hypertrichosis, although not always present, may be an important diagnostic clue for superficial epidermolytic ichthyosis in a young child.
research Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
This review highlights preclinical and clinical advancements in gene and cell therapies for epidermolysis bullosa and ichthyosis, noting a recently FDA-approved gene therapy for recessive dystrophic EB.
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