Hyperkeratosis thickening of the skin develops within months and worsens over time. Epidermolytic ichthyosis ei, also known as bullous epidermis ichthyosis bei, epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform erythroderma bcie, bullous ichthyosiform erythroderma. 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 is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions. He was treated with parenteral vitamin d3 and calcium supplements orally. Epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform erythroderma of brocq, ichthyosis bullosa of siemens or ichthyosis hystrix curthmacklin are synonyms for the same disease. 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.
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 hyperkeratosis article about epidermolytic. Epidermolytic hyperkeratosis is a rare autosomal dominant genodermatosis that presents at birth with generalized erythema, blisters and erosions. It was later described by various names by other authors like nevus verrucous, systematized epidermal nevus and epidermolytic hyperkeratosis. 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. Epidermolytic hyperkeratosis ehk is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. 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. 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. Epidermolytic hyperkeratosis ehk is a rare autosomal dominant disorder of cornification. Epidermolytic hyperkeratosis is a hereditary malady noticeable on the skin. It is caused mainly by mutations occurring in krt 1 and krt10 genes. Affected babies may have very red skin erythroderma and severe blisters. Hyperkeratosis epidermolytic what is, diagnosis, symptoms. The characteristic histopathologic features appear.
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. Epidermolytic hyperkeratosis an overview sciencedirect topics. A 6yearold child presented with generalized hyperkeratosis, most marked over the flexures. Epidermolytic ichthyosis epidermolytic hyperkeratosis or. Pdf on jan 1, 2017, pollozhani nora and others published epidermolytic hyperkeratosis.
Hyperkeratosis, epidermolytic definition of hyperkeratosis. Pdf epidermolytic hyperkeratosis case report semantic scholar. There are two main types of this form of hyperkeratosis. Dec 01, 2014 epidermolytic hyperkeratosis is a descriptive term which refers to specific microscopic features i. Epidermolytic ichthyosis nord national organization for. Granular keratohyalin clumping, hypergranulosis, and dyskeratosis resulting in intracellular eosinophilic globules cell within a cell appearance are additional distinctive findings. 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. 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. Epidermolytic hyperkeratosis ehk is an autosomal dominant genodermatosis characterized by. Newborns have reddish skin and sometimes blisters too. Aug 23, 2018 epidermolytic hyperkeratosis is usually inherited in an autosomal dominant pattern.
This skin thickening is often part of the skins normal protection against rubbing, pressure and other forms of loca. Massive hyperkeratosis with foci of epidermolysis in the upper spinous layer. Gianotti,6 in 1980, classified it as a localized form of congenital epidermolytic hyperkeratosis. Epidermolytic hyperkeratosis eh is a welldescribed histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis. Babies born with skin disorder look red with a frail skin susceptible to wounds and blisters.
This outer layer contains a tough, protective protein called keratin. 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. Epidermolytic hyperkeratosis eh is a distinctive histologic expression of an epithelial pathologic process. The underlying histopathology shows midepidermal splitting and hyperkeratosis, together referred to as epidermolytic hyperkeratosis ehk. Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1. Aug 23, 2019 epidermolytic ichthyosis ei, formerly known as epidermolytic hyperkeratosis ehk or bullous congenital ichthyosiform erythroderma bullous cie, is a form of congenital ichthyosis. Epidermolytic hyperkeratosis in the lower female genital. Epidermolytic hyperkeratosis types, causes, symptoms and. Histopathologic concept of epidermolytic hyperkeratosis jama. What are the differential diagnoses for epidermolytic. Study flashcards on epidermolytic hyperkeratosis at. Epidermolytic hyperkeratosis is a skin disorder that is present at birth.
Darkbrown, verrucous plaques in the extensor of the knee a and posterior neck b. Epidermolytic hyperkeratosis ehk, earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized. This histological pattern may be seen in a number of different clinical settings, some of which will be considered in other. 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. Epidermolytic ichthyosis genetic and rare diseases. 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. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. Epidermolytic hyperkeratosis definition of epidermolytic. Epidermolytic hyperkeratosis synonyms, epidermolytic hyperkeratosis pronunciation, epidermolytic hyperkeratosis translation, english dictionary definition of epidermolytic hyperkeratosis. 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. Paw print genetics epidermolytic hyperkeratosis in the. Ehk infection occur at birth or shortly after birth and it is characterized by blistering, erythema, and sometimes peeling. Clinical heterogeneity in epidermolytic hyperkeratosis jama.
Jun 01, 2018 epidermolytic ichthyosis ei is a rare, genetic skin disorder. 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. Epidermolytic hyperkeratosis also known as bullous congenital ichthyosiform erythroderma, bullous ichthyosiform erythroderma. The diagnostic features include a characteristic vacuolar.
Less often, hyperkeratosis develops on skin that has not been irritated. Dec 20, 2012 epidermolytic hyperkeratosis ehk is a rare skin disorder arising at birth. While different clinical presentations of ehk have been described, the distinctions have not been clear. Eh is characterized by epidermal acanthosis, compact papillomatous hyperkeratosis, and dissolution of the suprabasilar epithelium, resulting in perinuclear clear zones. Epidermolytic hyperkeratosis genetics home reference nih. Epidermolytic hyperkeratosisis ehk is a pathologic reaction pattern, first described by ackerman in 1970, characterised by hyperkeratosis, hypergranulosis, and epidermolysis 5. Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma or disorder of cornification type 3, is an autosomal.
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 is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions histology of epidermolytic hyperkeratosis. As the child grows, the blisters and wounds reduce and start forming scales. Histopathologic concept of epidermolytic hyperkeratosis. Types of hyperkeratosis hereditary epidermolytic hyperkeratosis this type of hyperkeratosis is. These genes are responsible for providing instructions for the synthesis of proteins referred to as keratin 1 and 10. We have examined 52 patients with ehk from 21 families in an effort to. Epidermolytic hyperkeratosis ehk, earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare. 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. Pdf denice peter rout, anushka nair, anand gupta, piyush kumaramity institute of biotechnology. 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. B widespread epidermolytic hyperkeratosis in a bullous congenital ichthyosiform erythroderma patient. 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 journal of clinical investigation. Grover disease with features of epidermolytic hyperkeratosis. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. Low power view of histology of epidermolytic hyperkeratosis demonstrates hyperkeratosis and epidermal hyperplasia of varying degrees figure 1.
Hyperkeratosis is a thickening of the outer layer of the skin. This means one copy of a mutated gene is able to cause the disorder and can be inherited from either parent. Epidermolytic hyperkeratosis is a rare autosomal dominant disorder of cornification with a prevalence of 1. The characteristic histopathologic features appear in a variety of acquired and congenital skin lesions. Siterestricted epidermolytic hyperkeratosis of the palms in a mother and child with epidermolytic palmoplantar. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. It is inherited in an autosomal dominant fashion, with about 50% of cases representing spontaneous mutations. They range from focal eh confined to a single rete ridge, that is clinically. 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. Epidermolytic hyperkeratosis is thought to affect about 1 person in every 200,000 to 300,000 individuals. Epidermolytic hyperkeratosis an overview sciencedirect.
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