Paw print genetics epidermolytic hyperkeratosis in the. Epidermolytic hyperkeratosis is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions histology of epidermolytic hyperkeratosis. Low power view of histology of epidermolytic hyperkeratosis demonstrates hyperkeratosis and epidermal hyperplasia of varying degrees figure 1. Histopathologic concept of epidermolytic hyperkeratosis. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body sepsis.
We report the case of a 10yearold girl who presented to the dermatology clinic with dirty brown, corrugated hyperkeratotic plaques involving joint flexures and the trunk. Epidermolytic hyperkeratosis journal of clinical investigation. The characteristic histopathologic features appear in a variety of acquired and congenital skin lesions. The diagnostic features include a characteristic vacuolar. Massive hyperkeratosis with foci of epidermolysis in the upper spinous layer. There are two main types of this form of hyperkeratosis. Epidermolytic hyperkeratosis an overview sciencedirect. Eh is characterized by epidermal acanthosis, compact papillomatous hyperkeratosis, and dissolution of the suprabasilar epithelium, resulting in perinuclear clear zones. Pdf epidermolytic hyperkeratosis case report semantic scholar. Darkbrown, verrucous plaques in the extensor of the knee a and posterior neck b. Epidermolytic ichthyosis nord national organization for. The histology of ehk is seen in a spectrum of clinical conditions including generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, mosaic cehk, ichthyosis bullosa of siemens, and vorners palmoplantar keratoderma. Clinical heterogeneity in epidermolytic hyperkeratosis jama.
Epidermolytic hyperkeratosis is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions. Dec 20, 2012 epidermolytic hyperkeratosis ehk is a rare skin disorder arising at birth. Pdf denice peter rout, anushka nair, anand gupta, piyush kumaramity institute of biotechnology. Babies born with skin disorder look red with a frail skin susceptible to wounds and blisters. We have examined 52 patients with ehk from 21 families in an effort to.
It was later described by various names by other authors like nevus verrucous, systematized epidermal nevus and epidermolytic hyperkeratosis. This histological pattern may be seen in a number of different clinical settings, some of which will be considered in other. The development of the epidermolytic hyperkeratosis infection occur regardless of the race as well as sex of the individual, though the infection occur more in children than in adults. Epidermolytic hyperkeratosis ehk, earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare. Epidermolytic hyperkeratosis ehk, earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized. Epidermolytic hyperkeratosis is thought to affect about 1 person in every 200,000 to 300,000 individuals. Epidermolytic hyperkeratosis ehk, earlier termed as bullous. Pdf on jan 1, 2017, pollozhani nora and others published epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Epidermolytic hyperkeratosis is a relatively uncommon histological pattern in epidermal nevi, being present in only 8 of 160 cases reported from the mayo clinic the clinical appearance of the lesions in this series is not described. The characteristic histopathologic features appear. Epidermolytic hyperkeratosis synonyms, epidermolytic hyperkeratosis pronunciation, epidermolytic hyperkeratosis translation, english dictionary definition of epidermolytic hyperkeratosis. Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma or disorder of cornification type 3, is an autosomal. Epidermolytic hyperkeratosis is a rare autosomal dominant genodermatosis that presents at birth with generalized erythema, blisters and erosions. This means one copy of a mutated gene is able to cause the disorder and can be inherited from either parent. He was treated with parenteral vitamin d3 and calcium supplements orally. Epidermolytic ichthyosis ei, also known as bullous epidermis ichthyosis bei, epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform erythroderma bcie, bullous ichthyosiform erythroderma. Both affected sibs showed collodion skin and generalized erythroderma at birth, and in the months after birth, developed erosions after mild mechanical trauma and progressive ichthyosis. Histopathologic concept of epidermolytic hyperkeratosis jama. Newborns have reddish skin and sometimes blisters too. Aug 23, 2018 epidermolytic hyperkeratosis is usually inherited in an autosomal dominant pattern.
Summary epidermolytic ichthyosis ei specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. Gianotti,6 in 1980, classified it as a localized form of congenital epidermolytic hyperkeratosis. Epidermolytic ichthyosis genetic and rare diseases. What are the differential diagnoses for epidermolytic.
Epidermolytic hyperkeratosis is inherited in an autosomal recessive manner in dogs meaning that they must receive two copies of the mutated gene one from each parent to develop the disease. Epidermolytic hyperkeratosis eh is a distinctive histologic expression of an epithelial pathologic process. Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1. Epidermolytic hyperkeratosis types, causes, symptoms and. It is inherited in an autosomal dominant fashion, with about 50% of cases representing spontaneous mutations. Less often, hyperkeratosis develops on skin that has not been irritated. Grover disease with features of epidermolytic hyperkeratosis. Siterestricted epidermolytic hyperkeratosis of the palms in a mother and child with epidermolytic palmoplantar. Aug 23, 2019 epidermolytic ichthyosis ei, formerly known as epidermolytic hyperkeratosis ehk or bullous congenital ichthyosiform erythroderma bullous cie, is a rare autosomal dominant genodermatosis, although up to 50% of cases represent new mutations.
While different clinical presentations of ehk have been described, the distinctions have not been clear. Epidermolytic hyperkeratosis is an abnormality of epidermal maturation characterized by compact hyperkeratosis, accompanied by granular and vacuolar degeneration of the cells of the spinous and granular layers fig. Epidermolytic hyperkeratosis definition of epidermolytic. Epidermolytic hyperkeratosis ehk is an autosomal dominant genodermatosis characterized by. Epidermolytic hyperkeratosis an overview sciencedirect topics.
Study flashcards on epidermolytic hyperkeratosis at. A 6yearold child presented with generalized hyperkeratosis, most marked over the flexures. Epidermolytic hyperkeratosis is a hereditary malady noticeable on the skin. Epidermolytic hyperkeratosis ehk is a rare autosomal dominant disorder of cornification. Hyperkeratosis epidermolytic what is, diagnosis, symptoms. B widespread epidermolytic hyperkeratosis in a bullous congenital ichthyosiform erythroderma patient. Blister formation decreases, but may still occur after skin trauma or during. It is characterized by generalized erythroderma and severe hyperheratosis with small wartlike scaly formations over the entire body, especially in the body folds and sometimes on the palms and soles. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Granular keratohyalin clumping, hypergranulosis, and dyskeratosis resulting in intracellular eosinophilic globules cell within a cell appearance are additional distinctive findings. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same mutation, there is a risk of having affected. Epidermolytic hyperkeratosis genetics home reference nih. Affected babies may have very red skin erythroderma and severe blisters. It is caused mainly by mutations occurring in krt 1 and krt10 genes.
Epidermolytic ichthyosis epidermolytic hyperkeratosis or. Epidermolytic ichthyosis ei formerly epidermolytic hyperkeratosis ehk is considered one of the five main types of ichthyosis the others being lamellar ichthyosis, congenital ichthyosiform erythroderma, ichthyosis vulgaris, and xlinked ichthyosis. Epidermolytic hyperkeratosis characteristic feature disease is named for, also called granular degeneration, is seen in upper epidermis granular and vacuolar degeneration of spinous and granular cell layers microscopically this appears as cleared spaces of variable size around nuclei in upper layers of nucleated epidermis. Types of hyperkeratosis hereditary epidermolytic hyperkeratosis this type of hyperkeratosis is. Epidermolytic hyperkeratosis article about epidermolytic.
Dec 01, 2014 epidermolytic hyperkeratosis is a descriptive term which refers to specific microscopic features i. Jun 01, 2018 epidermolytic ichthyosis ei is a rare, genetic skin disorder. These types may be part of an inherited condition, may begin soon after birth and can affect skin on large areas of the body freedberg et al, 2003. These genes are responsible for providing instructions for the synthesis of proteins referred to as keratin 1 and 10. Epidermolytic hyperkeratosis is a rare autosomal dominant disorder of cornification with a prevalence of 1. 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. Hyperkeratosis is a thickening of the outer layer of the skin. This outer layer contains a tough, protective protein called keratin.
Epidermolytic hyperkeratosis in the lower female genital. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. This skin thickening is often part of the skins normal protection against rubbing, pressure and other forms of loca. Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma or disorder of cornification type 3, is an autosomal dominant hyperkeratotic and blistering condition that is caused by a variety of different mutations in the coexpressed genes, keratin 1 and keratin 10. Histopathologic study of a representative skin lesion on the left upper back showed focal acantholysis and dyskeratosis in the epithelium with concomitant foci of keratinocyte vacuolar degeneration with hypergranulosis of the stratum corneum and spinosum consistent with epidermolytic hyperkeratosis ehk. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. Epidermolytic hyperkeratosis also known as bullous congenital ichthyosiform erythroderma, bullous ichthyosiform erythroderma. In the subsequent months after birth erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. Epidermolytic hyperkeratosisis ehk is a pathologic reaction pattern, first described by ackerman in 1970, characterised by hyperkeratosis, hypergranulosis, and epidermolysis 5. Epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform erythroderma of brocq, ichthyosis bullosa of siemens or ichthyosis hystrix curthmacklin are synonyms for the same disease.
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