Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event
نویسندگان
چکیده
منابع مشابه
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mut...
متن کاملKeratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported. We detected a K1 gene (KRT1) mutation in epidermal nevus with EH in a 10-year-old Japanese male. The patient showed well-demarcated verrucous, hyperkeratotic plaques mainly on the trunk, covering ...
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A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has b...
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A 20 year old boy presented to the dermatology department for treatment of a congenital icthyosis with a history of generalized erythroderma and trauma related blistering since birth. At the time of presentation he was noted to have red hyperkeratotic plaq corrugated over the joint flexures, elbows, knees after birth erythema and blistering improved but patient developed hyperkeratotic scaling ...
متن کاملEpidermolytic Hyperkeratosis - case report*
Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermoly...
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ژورنال
عنوان ژورنال: International Journal of Dermatology
سال: 2005
ISSN: 0011-9059,1365-4632
DOI: 10.1111/j.1365-4632.2004.02364.x