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Epidermolytic hyperkeratosis (EI) is a severe form of dry scaly skin, caused by genetic mutations in keratin genes. It affects around 1 in 200,000 to 300,000 babies and can be diagnosed by skin biopsy and genetic testing.
A rare keratinization disorder that causes generalized erythema, bullae and desquamation at birth. Learn about its definition, terminology, epidemiology, sites, pathophysiology, clinical features, diagnosis, treatment and differential diagnosis.
31 lip 2023 · Epidermolytic hyperkeratosis is a rare autosomal dominant pathology of cornification caused by mutations in keratins 1 and 10. It was originally termed bullous congenital ichthyosiform erythroderma owing to the hallmark features of erythroderma, blistering and skin denudation present at birth and su ….
8 maj 2019 · Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsi ….
Learn about the histological features and variants of epidermolytic hyperkeratosis, a pattern of skin changes seen in some dermatological conditions. Find out the causes, diagnosis and references of this skin disorder.
Learn about the causes, symptoms, inheritance, and treatment of epidermolytic hyperkeratosis, a skin disorder that affects keratin proteins and causes blistering and thickening. Find out how gene mutations in KRT1 or KRT10 can lead to this condition and its types.
The clinical condition generalized epidermolytic hyperkeratosis, or bullous congenital ichthyosiform erythroderma, is characterized at birth and in the neonatal period by erythroderma, widespread bullae, and desquamation, resulting in denuded skin.
