Histopathologic Concept of Epidermolytic Hyperkeratosis

Ackerman, A. Bernard

doi:10.1001/archderm.1970.04000090015003

Cited by 102 publications

(27 citation statements)

References 12 publications

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“…Gels were subjected to immunoblot analysis by using anti-P (lanes [1][2][3][4][5][6][7][8][9][10][11][12][13] ally thick, and cell size and organization within the granular layer were perturbed ( Fig. 2A, transgenic; B, control).…”

Section: Resultsmentioning

confidence: 99%

“…A possible clue to the genetic basis for epidermolytic hyperkeratosis (EH) is the similarity between tonofilament clumping in suprabasal cells of EH skin and in basal cells of skin from another blistering disease, epidermolysis bullosa simplex (EBS) (1)(2)(3)(4). EH differs from EBS in that (i) suprabasal, rather than basal, cells are prone to cytolysis, and (ii) basal cell hyperproliferation is a hallmark of EH.…”

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confidence: 99%

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Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Fuchs

Esteves

Coulombe

1992

Proc. Natl. Acad. Sci. U.S.A.

163

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Epidermolytic hyperkeratosis (EH; previously called bullous con al ichthyosiform erythroderma) is an autosomal dominant skin disease of unknown etiology, In the past year, transgenic mouse technology was utilized to infer the genetic basis for EBS, which involves mutations in one of two genes encoding basal-specific epidermal keratins K5 and K14 (5, 6). Transgenic mice expressing mutant K14 genes exhibited EBS phenotypes (5, 6), and subsequent analyses ofhuman EBS patients revealed mutations in the K5 and K14 genes (7-9). As epidermal cells commit to terminally differentiate, they switch off K5 and K14 expression and switch on a new set of keratins, K1 and K10 (10-14). In the fully differentiated squame, K1 and K10 (in slightly processed forms) constitute -85% of cellular protein (10). Given (i) the parallels between tonofilament clumping in EH and EBS, (ii) the knowledge that EBS is a keratin disorder, and (iii) the pattern of keratin expression during differentiation, we utilized transgenic technology to investigate the possibility that EH is a genetic disease involving K1 and K10 defects.

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Fuchs

Esteves

Coulombe

1992

Proc. Natl. Acad. Sci. U.S.A.

163

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“…The incidence of this disease is estimated at 1 in 200,000 in the United States (3). Histopathology is characterized by cytolysis and intra-epidermal cleavage in the suprabasal layers and a broadening of the granular and stratum corneum layers (4,5). The ultrastructural hallmark of EHK is the appearance of a collapsed keratin filament network with clumps and aggregates of the tonofilaments surrounding the nucleus in the spinous and granular cells of the epidermis (6,7).…”

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confidence: 99%

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

et al. 1993

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Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyoslform erythroderma), Is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) In patients with this disease. Structure-function models predict that these mutations would impair normal filament assembly and function. We have extended our earlier studies to include 8 more Incidences of EHK. In half of these families, we were unable to locate a mutation within the rod domains of either K1 or K10. However, polymorphic restriction site and sequence analysis of the other families revealed a mutational hot spot within the 1A alpha-helical segment of K10. These involve Arginlne to Hlstldlne, Arglnlne to Cystelne and Arglnlne to Leucine substitutions at residue 10 of the rod domain. Interestingly, mutations In the corresponding Arglnine residue in keratin K14 have been Identified In patients with epidermolysis bullosa simplex. The large number of mutations found at this position in both keratins K10 and K14 suggests that other eplthelia cell disorders will be discovered that are caused by the corresponding mutation in related type I keratin genes.

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“…EH can be seen as an incidental finding in combination with distinct histopathologic features of few lesions like seborrhoeic keratosis, pilar cyst, cutaneous horn, actinic keratoses, leukokeratosis, intradermal nevus, malignant melanoma and lichen amyloidosis. [1] Many hypotheses have been postulated regarding pathogenesis of EA but none has been validated. Immunohistochemical techniques have shown that mutations in K1 and K10 gene may be a reason for the expression of this condition.…”

Section: Case Report Case Reportmentioning

confidence: 99%

“…It is associated with solitary or widespread cutaneous diseases of an inherited or acquired nature. [1] Among the acquired conditions, epidermolytic acanthoma (EA) is unusual and can present as a warty lesion in patients of all ages in solitary, spreading or disseminated forms. We report an unusual case of linear EA of the vulva occurring in a 50-year-old lady.…”

Section: Introduction Introductionmentioning

confidence: 99%

Linear epidermolytic acanthoma of vulva: An unusual presentation

Thomas

George

Thomas

2010

Indian J Dermatol Venereol Leprol

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Epidermolytic acanthoma (EA) is a rare benign tumor that shows epidermolytic hyperkeratosis (EH) on histopathology. It can occur in a solitary or disseminated form. This condition needs to be distinguished from other hereditary or acquired conditions that may show EH. We diagnosed an unusual case of EA of the vulva presenting in a linear pattern in a 50-year-old lady based on the clinical features and typical histopathological findings and stress the importance of considering epidermolytic acanthoma in the differential diagnosis of verrucous lesions of the genitalia.

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Histopathologic Concept of Epidermolytic Hyperkeratosis

Cited by 102 publications

References 12 publications

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

Linear epidermolytic acanthoma of vulva: An unusual presentation

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