epidermolytic hyperkeratosis


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hyperkeratosis

 [hi″per-ker″ah-to´sis]
1. hypertrophy of the horny layer of the skin, or any disease characterized by it.
2. hypertrophy of the cornea. adj., adj hyperkeratot´ic.
epidermolytic hyperkeratosis a hereditary autosomal dominant form of ichthyosis, present at birth. Characteristics include generalized redness of the skin and severe hyperkeratosis with small, hard wartlike scales over the entire body, accentuated in areas that flex or bend and sometimes involving the palms and soles. In infancy and childhood, there are recurrent bullae, most often on the lower limbs.
follicular hyperkeratosis a skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules, the openings of which are often closed with a white plug of encrusted sebum. Deficiencies of vitamins A and E, B complex vitamins, and essential fatty acids have all been implicated in the etiology. Called also phrynoderma.
hyperkeratosis lenticula´ris per´stans an autosomal dominant skin disorder, usually occurring in the third or fourth decade of life, characterized by pink, red, or yellow to brown scaly papules on the lower leg and back of the foot, and sometimes on the trunk, thigh, arm, back and palm of the hand, or sole of the foot.

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

epidermolytic hyperkeratosis

One of a range of genetic skin-blistering diseases caused by mutations in the genes for the protein keratin expressed mainly in the basal cells of the epidermis. Children are affected most severely. There is redness, blistering and scaling of the skin at the sites of pressure or trauma especially the elbows and knees. The blistering is worsened by heat but the blisters heal without scarring and become less frequent as the child gets older. The scaling, however, persists.
References in periodicals archive ?
(28.) Chassaing N, Kanitakis J, Sportich S, et al: Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
(29.) Ross R, DiGiovanna JJ, Capaldi L, et al: Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Pathogenic mutations leading to non-conservative amino acid substitutions cluster at the boundaries of the a-helical rod region.5 The characteristic histological features of BIE hyperkeratosis with lysis and tonofilament clumping in granular layer keratinocytes are termed epidermolytic hyperkeratosis' and in some countries this term is also used to define the clinical picture.2 BIE typically presents with epidermolysis (fragile skin) which gives way to gradual evolution of hyperkeratosis.
Epidermolytic hyperkeratosis may sometimes be present in the follicular epithelium.

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