Hyperkeratosis is most commonly observed in dermal application studies and is. We report the case of a 5 year old girlwho presented an. The underlying histopathology shows midepidermal splitting and hyperkeratosis, together referred to as epidermolytic hyperkeratosis ehk. Case report epidermolytic hyperkeratosis with rickets. Epidermolytic hyperkeratosis ehk is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin.
Multiple epidermolytic acanthomas must not be confused with genital human papillomavirus infection. The punctate form shows a dense keratin plug of the stratum corneum with underlying depression of the stratum malpighii and adjacent pitting of the stratum corneum figure 12. Epidermolytic hyperkeratosis 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. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with epidermolytic palmoplantar keratoderma. Case report female patient, 5 years and 3 months old, from the state of bahia. Pdf epidermolytic hyperkeratosis case report researchgate. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Because of the sparsity of comprehensive studies, little is known on the patient demographics and clinical characteristics of this uncommon entity. Epidermolytic hyperkeratosis infection is a rare occurring skin disorder and it is believed that 1 out of every 200,000 people suffer from the infection. This is one of the few keratosis infection that do not occur in a particular race, it occur in all. Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of. The clinical condition generalized epidermolytic hyperkeratosis, also known as. Epidermolytic hyperkeratosis associated with melanocytic nevi. Nutritional rickets has been reported in children with various types of ichthyosis like lamellar and xlinked types.
Epidermolytic hyperkeratosis represents a reactive histopathological pattern seen in inherited diseases such as. Dec 20, 2012 epidermolytic hyperkeratosis ehk is a rare skin disorder arising at birth. Many mutation problems caused to these keratin supplying genes have been reported to be behind several complications caused by the infection. Guidance on the management of hyperkeratosis of the lower limb 3 5. It is not a common skin disorder as it is linked with heredity. While different clinical presentations of ehk have been described, the distinctions have not been clear. Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1. 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. As the child grows, the blisters and wounds reduce and start forming scales. Epidermolytic hyperkeratosis is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions. Less often, hyperkeratosis develops on skin that has not been irritated.
This means one copy of a mutated gene is able to cause the disorder and can be inherited from either parent. Hyperkeratosis refers to thickening of your skins outer layer. Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis eh caused by k10 gene mutations have been reported, although no k1 gene mutation has yet been reported. Epidermolytic hyperkeratosis ehk, bullous congenital ichthyoslform erythroderma, is an autosomal dominant human skin disorder.
Convert and create pdf from various types of files like word doc, excel xls, powerpoint ppt. Epidermolytic ichthyosis epidermolytic hyperkeratosis or. Aug 23, 2018 hyperkeratosis is the thickening of the outer layer of the skin, which contains a protein known as keratin that helps to protect the body against infiltration by water and other chemical and. This condition is also known as bullous ichthyosiform erythroderma. Female patient monitored since 1978 diagnosed with epidermolytic. Epidermolytic ichthyosis ei is an example of a nonsyndromic inherited ichthyosiform condition with a varied clinical. A 17monthold hispanic girl presented with a plate of subcutaneous bone since birth as well.
On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. Epidermolytic hyperkeratosis photomicrograph depicting. Epidermolytic hyperkeratosis ehk, is also referred to as bullous cie. Epidermolytic hyperkeratosis an overview sciencedirect. Annular epidermolytic ichthyosis aei is a rare subtype of epidermolytic ichthyosis ei characterized by recurrent flares of erythematous and scaly lesions alternating with periods of almost normal skin with or without associated palmoplantar keratoderma ppk. Epidermolytic hyperkeratosis is a rare disease that compromises the quality of life of the patient, for the epidermis works as an interface between the individual and the environment. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. The formation of scale is linked to hyperkeratosis. 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.
Pdf epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1. 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. 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. Cases of melanocytic nevi with epidermolytic hyperkeratosis were retrieved from the files of a referral dermatopathology laboratory over a 6year period. A 6yearold child presented with generalized hyperkeratosis, most marked over the flexures. Its also referred to as bullous ichthyosiform erythroderma and is an odd skin disorder that falls under ichthyosis.
Babies born with skin disorder look red with a frail skin susceptible to wounds and blisters. Gasser, 1964, whereas ehk arises from sporadic mutations in up to 50% of cases. Department of dermatology mc 624, university of illinois at chicago, chicago, usa. Only seven cases of disseminated epidermolytic acanthoma dea have been described. Epidermolytic ichthyosis ei, also known as bullous epidermis ichthyosis bei, epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform erythroderma bcie, bullous ichthyosiform erythroderma. More recently, there are attempts in order to differentiate clinical epidermolytic hyperkeratosis cehk and histologic epidermolytic hyperkeratosis hehk. Figure 2 hyperkeratosisorthokeratotic hyperkeratosis arrow in a female b6c3f1 mouse from a chronic study. Focal acantholytic dyskeratosis fad, epidermolytic hyperkeratosis ehk, and haileyhaileylike acantholysis hh represent unique histology reaction patterns, which can be associated with defined phenotypic and genotypic alterations. Disseminated epidermolytic acanthoma probably related to. Jun 01, 2018 epidermolytic ichthyosis ei is a rare, genetic skin disorder. 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. Figure 1 hyperkeratosisparakeratotic hyperkeratosis arrow in a male f344n rat from a subchronic study. A case of epidermolytic hyperkeratosis in a female child is described, whose diagnosis was confirmed both clinically and by means of a biopsy. Siterestricted epidermolytic hyperkeratosis of the palms in a mother and child with epidermolytic palmoplantar keratoderma.
Epidermolytic hyperkeratosis ehk, bullous congenital ichthyosiform. Epidermolytic hyperkeratosis ehk is a rare autosomal dominant disorder of cornification. 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 palmoplantar keratoderma genetic and rare. 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 hyperkeratosis types, causes, symptoms and. Affected babies may have very red skin erythroderma and severe blisters.
Epidermolytic hyperkeratosis is a descriptive term which refers to specific microscopic features i. Epidermolytic hyperkeratosis definition of epidermolytic. Figure 2 hyperkeratosis orthokeratotic hyperkeratosis arrow in a female b6c3f1 mouse from a chronic study. Hyperkeratosis epidermolytic what is, diagnosis, symptoms. This entity should be distinguished from other hereditary or acquired conditions which involve epidermolytic hyperkeratosis and other benign acanthomas. 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. He was treated with parenteral vitamin d3 and calcium supplements orally. Epidermolytic acanthoma ea is a rare, benign acquired cutaneous keratosis displaying epidermolytic hyperkeratosis in more than 50% of its surface. Epidermolytic hyperkeratosis eh is a distinctive histologic expression of an epithelial pathologic process. Pdf converter is a online webbased document to pdf converter software. Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. We report this case of epidermolytic hyperkeratosis with rickets for its rarity.
Keratin can start to overgrow in many different conditions. Epidermolytic ichthyosis ei is a rare, genetic skin disorder. Keratin 1 gene mutation detected in epidermal nevus with. He was treated with parenteral vitamin d3 and calcium. Recently, we and others have described mutations in keratins 1 and 10 k1 and k10 in patients with this disease. Epidermolytic hyperkeratosis also is noted incidentally in several.
Histopathologic concept of epidermolytic hyperkeratosis jama. Pdf pathogenesis of the permeability barrier abnormality. Pdf denice peter rout, anushka nair, anand gupta, piyush kumaramity institute of biotechnology, amity university mumbai, navi mumbai. Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis1. Incidental microscopic foci demonstrating these patterns have been identified in skin and mucosal specimens in association with a gamut of disease processes. Hyperkeratosis, epidermolytic definition of hyperkeratosis.
Epidermolytic hyperkeratosis ehk, earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an. It is associated with an overproliferation of the keratinproducing cells over the surface of the skin ilf, 2012 contributing to increased thickness of the epidermis and. Clinical heterogeneity in epidermolytic hyperkeratosis. Epidermolytic hyperkeratosis also known as bullous congenital ichthyosiform erythroderma, bullous ichthyosiform erythroderma. Figure 1 hyperkeratosis parakeratotic hyperkeratosis arrow in a male f344n rat from a subchronic study. Types of hyperkeratosis hereditary epidermolytic hyperkeratosis this type of hyperkeratosis is. Hyperkeratosis is a term referring to a microscopic layer of thickened parakeratin andor orthokeratin of the oral mucosal epithelium efigure 220. Epidermolytic hyperkeratosis is the distinctive histopathologic change that has been described as th. Epidermolytic hyperkeratosis free download as word doc. Structurefunction models predict that these mutations would impair normal filament. 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.
May 14, 2017 the diffuse form of keratoderma histologically shows epidermal acanthosis and orthokeratotic hyperkeratosis with occasional epidermolytic hyperkeratosis. It was first described in 1970 by shapiro and baraf 1 who reported 6 cases of solitary lesions and 1 case of multiple lesions on the scrotum that clinically resembled condyloma acuminatum. Epidermolytic hyperkeratosis eh is a descriptive term for histopathologic changes that have been observed in various related and unrelated benign conditions. This is a skin disorder that is congenital, implying that it occurs at birth. This case report emphasizes early diagnosis, possible differential diagnoses and discusses the most uptodate therapeutics. In people who have the npstype, they do not show extensive development of palmoplantar hyperkeratosis palm hyperkeratosis, but they do have the hyperkeratosis forming in other body parts. Epidermolytic hyperkeratosis congenital disorder medicine. The disorder of keratinization has varied clinical manifestations in the extent of cutaneous. In two lesions on chronically sundamaged skin, eh occurred in association with nuclear atypia. We have examined 52 patients with ehk from 21 families in an effort to define and characterize the specific clinical features of this disorder. Low power view of histology of epidermolytic hyperkeratosis demonstrates hyperkeratosis and epidermal hyperplasia of varying degrees figure 1. Epidermolytic hyperkeratosis is a form of ichthyosis normally resistant to topical treatments. N2 a yearold boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth.
A corn or callus on your hands or feet is a form of hyperkeratosis. We detected a k1 gene krt1 mutation in epidermal nevus with eh in a 10yearold japanese male. In some cases, hyperkeratosis is the skins response to rubbing or irritation. Epidermolytic hyperkeratosis genetics home reference nih. Epidermolytic hyperkeratosis is a histological pattern seen in isolation or as an incidental finding in a number of dermatological conditions histology of epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis eh is a welldescribed histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis. Role of the keratin 1 and keratin 10 tails in the pathogenesis. Because the thickened keratin layer exhibits a whitish clinical appearance in the moist environment of the oral cavity, the term hyperkeratosis is often used clinically to refer to white areas on oral mucosa without. Ei presents as a bullous disease in newborns, followed by a lifelong ichthyotic skin disorder. Epidermolytic ichthyosis genetic and rare diseases. Epidermolytic ichthyosis nord national organization for. Definition hyperkeratosis is a thickening of the outer layer of the skin the stratum corneum. Genetic testing of the krt10 gene will reliably determine whether a dog is a genetic carrier of epidermolytic hyperkeratosis. The characteristic histopathologic features appear. Epidermolytic hyperkeratosis is usually inherited in an autosomal dominant pattern. Epidermolytic hyperkeratosisis ehk is a pathologic reaction pattern, first described by ackerman in 1970, characterised by hyperkeratosis, hypergranulosis, and epidermolysis 5.
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. 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. The use of the term epidermolytic hyperkeratosis to describe both the clinical disease and the characteristic histopathologic features caused great confusion in medical literature. She is the only child of healthy and nonconsanguineous parents. 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. Platelike osteoma cutis also is a rare diagnosis and is associated with abnormal ossification of cutaneous or subcutaneous tissue. Study flashcards on epidermolytic hyperkeratosis at. Epidermolytic hyperkeratosis is a rare autosomal dominant disorder of cornification with a prevalence of 1. It is an autosomal infection, which results from the mutation of some keratin producing genes.
Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. She was born through csection with no complications. Epidermolytic hyperkeratosis with ichthyosis hystrix. Jun 15, 2017 in some cases, hyperkeratosis is the skins response to rubbing or irritation. Histopathologic characterization of epidermolytic hyperkeratosis. Epidermolytic acanthoma ea is a rare benign tumor that is characterized by epidermolytic hyperkeratosis on histopathology. Multiple epidermolytic acanthomas must not be confused. Epidermolytic hyperkeratosis is a hereditary malady noticeable on the skin. This phenomenon represents an epidermolytic variant of solar keratosis. This is a pdf file of an unedited manuscript that has. Mar 01, 2020 a registry supports research by collecting of information about patients that share something in common, such as being diagnosed with epidermolytic palmoplantar keratoderma. Epidermolytic hyperkeratosis an overview sciencedirect topics. Epidermolytic hyperkeratosis is a skin disorder that is present at birth.
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. Clinical information was obtained from the bi opsy forms submitted by the dermatologists who had originally seen the patients, from hospital charts,and in one case no. Epidermolytic hyperkeratosis is usually transmitted following an autosomal dominant inheritance pattern see heimendinger and schnyder, 1962. No other skin changes or other abnormalities were present on examination. Epidermolytic hyperkeratosis is thought to affect about 1 person in every 200,000 to 300,000 individuals. The rate of infection of this hyperkeratosis condition is believed to be the same worldwide. An affected baby may have reddened skin or erythroderma and pretty severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in. Epidermolytic hyperkeratosis is a rare congenital ichthyosis. Hyperkeratosis is an increased thickness of the stratum corneum and may be absolute an actual increase in thickness, which is most common or relative an apparent increase due to thinning of the underlying epidermis, which is rare. 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.