porcupine skin

ep·i·der·mo·lyt·ic hy·per·ker·a·to·sis

[MIM*144200] characterized by localized lesions, keratosis palmaris and plantaris, and elevated IgE, associated with hyperkeratosis, hypergranulosis, and reticular degeneration in the upper epidermis; autosomal dominant inheritance, caused by mutation in the epidermolytic palmoplantar keratoderma gene (EPPK) on chromosome 17q. Generalized epidermolytic hyperkeratosis is present in bullous congenital ichthyosiform erythroderma. Synonym(s): porcupine skin

porcupine skin

(1) Ichthyosis hystrix of Curth-Macklin, see there.
(2) Ichthyosis hystrix gravior, see there.

单词	porcupine skin
释义	porcupine skin ep·i·der·mo·lyt·ic hy·per·ker·a·to·sis [MIM144200] characterized by localized lesions, keratosis palmaris and plantaris, and elevated IgE, associated with hyperkeratosis, hypergranulosis, and reticular degeneration in the upper epidermis; autosomal dominant inheritance, caused by mutation in the epidermolytic palmoplantar keratoderma gene (EPPK*) on chromosome 17q. Generalized epidermolytic hyperkeratosis is present in bullous congenital ichthyosiform erythroderma. Synonym(s): porcupine skin porcupine skin (1) Ichthyosis hystrix of Curth-Macklin, see there. (2) Ichthyosis hystrix gravior, see there.
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