Erythrokeratodermia variabilis and erythrokeratoderma en cocardes. A clinical, histological and ultrastructural study. A 30yearold woman with erythrokeratodermia variabilis was treated with oral isotretinoin for four months. Affected persons have transient migratory areas of discrete macular erythema as well. Fixed plaques, usually occurring on the outer surfaces of the arms. The topic erythrokeratodermia variabilis of mendes da costa you are seeking is a synonym, or alternative name, or is closely related to the medical condition erythrokeratoderma variabilis. A skin condition in which papules and scaly skin form as a result of injury.
The majority of patients present at birth or during infancy with shortlasting, circumscribed, red patches that may involve any part of the body surface. Molecular genetic testing for sequence variants in the gjb3, gjb4, and gja1 genes is available also as nextgeneration sequencing panel and expected to yield a positive result in at least two thirds of patients. Erythrokeratodermia variabilis et progressiva ekvp, online mendelian inheritance in man omim no. Erythrokeratodermia is a group of keratinization disorders types include. Through 25 years of teaching and reading dermatopathology using the method of pattern recognition first propounded by dr. A sparse superficial perivascular lymphohistiocytic infiltrate. Erythrokeratodermia variabilis inherited in an autosomal recessive. Progressive symmetric erythrokeratoderma having overlapping. Erythrokeratodermia variabilis is a rare keratinization disorder characterized by two types of skin lesions, stationary hyperkeratotic scaly plaques, and migratory erythematous bizarre patches. Histopathology findings are nonspecific and include acanthosis.
May 30, 2017 erythrokeratodermia variabilis et progressiva ekvp is a chronic skin disorder without other organ manifestations. Pdf on mar 30, 2016, tambe swagata and others published erythrokeratodermia variabilis. They are characterized by two distinct morphological types of skin lesions. Erythrokeratodermia variabilis ekv is a rare heterogeneous skin disorder. Discussion classical erythrokeratodermia variabilis ekv mendes da costa syndrome rst described in 1925 by mendes da costa is usually inherited as autosomal dominant disorder with few cases of autosomal recessive pattern inheritance. Gainoffunction mutations in trpm4 activation gate cause. Erythrokeratodermia variabilis with erythema gyratum repens. The study of erythrokeratodermia variabilis has been mentioned in research publications which can be found using our bioinformatics tool below. Establishing a longterm relationship with patients is important in reevaluating effectiveness of topical therapy and in directing the families to. Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory lasting for hours to days and then fading or. Fixed hyperkeratotic plaques and sharply marginated, pruritic, and migratory erythematous lesions. May 21, 2012 erythrokeratodermia variabilis et progressiva is a skin condition characterized by welldefined round or oval red scaly patches that may join together to form maplike patterns. Clinical and light and electron microscopic observations were made before and after treatment. Progressive symmetric erythrokeratoderma psek is an autosomal dominant genodermatosis with incomplete.
Ichthyosis, erythrokeratodermia variabilis nord national. Erythrokeratodermia variabilis erythrokeratodermia variabilis engelsk definition. Progressive symmetric erythrokeratodermia wikipedia. If properly treated, the skin manifestations of ekvp can be well controlled.
Genetic linkage between erythrokeratodermia variabilis and rh locus. Clinical differential diagnoses include erythrokeratodermia variabilisekv and pityria. Apr 06, 2018 what are the causes of erythrokeratoderma variabilis. An autosomal dominant skin disease characterized by transient and variable noninflammatory erythema and hyperkeratosis. Progressive symmetric erythrokeratodermia, gottron type. Erythrokeratodermia variabilis et progressiva ekvp patients receiving systemic retinoid therapy should be followed up on a regular basis to monitor treatment effectiveness and adverse effects. Erythrokeratodermia variabilis ekv are a rare heterogeneous group of inherited cornification disorders. These patches are usually reddishbrown and can either affect many parts of the body or occur in only a small area. Histopathology of the lesional skin showed psoriasiform hyperplasia of epidermis with focal parakeratosis and mild perivascular lymphocytic infiltration in the superficial. Erythrokeratoderma variabilis results in welldefined round or oval red, scaly plaques thick patches that may join together to form maplike patterns. A characteristic electron microscopic feature was subnormal numbers of keratinosomes within the stratum granulosum of hyperkeratotic plaques. Get a printable copy pdf file of the complete article 3. Erythrokeratodermia variabilis and erythrokeratoderma en. May 30, 2017 the diagnosis of erythrokeratodermia variabilis et progressiva ekvp is established on the basis of clinical features.
These patches are usually reddishbrown and can either affect many parts of the body or occur in only a. Erythrokeratodermia variabilis foundation for ichthyosis. Erythrokeratoderma variabilis progressiva orphanet. A healthy woman complained of brown spots on her extremities. The histopathological examination of the hyperkeratotic plaque showed. Although its signs and symptoms vary, the condition is characterized by two major features. It is characterized by migrating red patches resembling a geographic map, and by localized or generalized hyperkeratosis with scaling of the skin. Erythrokeratodermia variabilis et progressiva wiley online library. Familial erythrokeratodermia variabilis with pustular lesions. This is the process that forms the different layers of the epidermis, the outermost layer of the skin.
Erythrokeratodermia variabilis et progressiva ekvp is a rare inherited skin disease characterized by fixed hyper. Soeprono organized and presented the voluminous material in a systematic approach which is both comprehensible and digestible. Ekv erythrokeratoderma variabilis ichthyosis support group. Research of erythrokeratodermia variabilis has been linked to keratosis, erythema, skin diseases, genetic, exfoliative dermatitis, dermatologic disorders. Find, read and cite all the research you need on researchgate. Erythrokeratodermia variabilis treated with isotretinoin. Erythrokeratodermia variabilis ekv, mim 3200 is part of the clinically and genetically heterogeneous group of erythrokeratodermias. Erythrokeratodermia variabilis also is a very rare type of ichthyosis that can present in infancy. Erythrokeratoderma variabilis is usually inherited in an autosomal dominant fashion. Looking for more information, highresolution images, or differential diagnoses on this entity. Progressive symmetric erythrokeratodermia is a rare, autosomal dominant skin condition that manifests soon after birth with erythematous, hyperkeratotic plaques that are symmetrically distributed on the extremities, buttocks, and face, but sparing the trunk. A novel recessive connexin 31 gjb3 mutation in a case of. Dermatopathology reference describes erythrokeratodermia variabilis histopathology including histologic features and provides links to additional medical references.
Erythrokeratodermia figurata, congenital familial, in plaques. The name comes from the clinical findings of redness erythema and thickened skin hyperkeratosis. The hallmark of erythrokeratodermia variabilis ekv is the seemingly independent occurrence of transient, figurate erythema reddening of the skin and hyperkeratosis abnormal thickening of the outer layer of skin. Chronic symmetrically distributed hyperpigmented plaques in a middleage woman etsubdenk ajebo, bs, weston b. Erythrokeratodermia variabilis is characterized by red skin areas with sharp borderlines, which tend to shift positions. Pdf erythrokeratodermia variabilis ekv is a rare heterogeneous skin disorder. Further evidence for localization of the gene of erythrokeratodermia variabilis.
Congenital cases usually follow an autosomal dominant pattern of inheritance. Erythrokeratodermia variabilis an overview sciencedirect. The various erythrokeratodermas are characterised by well demarcated plaques of erythema redness and. There are approximately 50 affected families in the uk. Erythrokeratodermia variabilis et progressiva 1 cags.
Genedx 207 perry parkway gaithersburg, md 20877 toll free. Etiology erythrokeratoderma variabilis is a genetic condition that may have a familial inheritance pattern or be sporadic in occurrence. To research the causes of erythrokeratodermia variabilis, consider researching the causes of these these diseases that may be similar, or associated with erythrokeratodermia variabilis. Symptoms of erythrokeratodermia variabilis, mendes da costa. Erythrokeratodermia variabilis ekv is a rare subtype of heterogeneous group of skin diseases called the erythrokeratodermi, and presents with migratory erythema and fixed hyperkeratotic plaques. Clinical differential diagnoses include erythrokeratodermia variabilis ekv and pityriasis. Ek variabilis ekv, a second major clinical subtype. Erythrokeratoderma definition of erythrokeratoderma by. Erythrokeratodermia variabilis et progressiva workup. Soepronos textbook is available on and includes detailed information on over 600 entities and includes four dvd diskettes with highresolution images that provide a virtual dermatopathology reference and guide. Chronic symmetrically distributed hyperpigmented plaques in a. Ekv erythrokeratoderma variabilis is a very rare, inherited skin disease. Symptoms of erythrokeratodermia variabilis, mendes da costa type including 3 medical symptoms and signs of erythrokeratodermia variabilis, mendes da costa type, alternative diagnoses, misdiagnosis, and correct diagnosis for erythrokeratodermia variabilis, mendes da costa type signs or erythrokeratodermia variabilis, mendes da costa type symptoms.
Erythrokeratodermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaquelike or generalized hyperkeratosis and transient red patches of variable size, shape, and. Patients with erythrokeratodermia variabilis due to mutation in the gja1 gene have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to nearconfluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema summary by boyden et al. Erythrokeratodermia variabilis is inherited in an autosomal dominant manner of inheritance. Erythrokeratodermia variabilis conditions gtr ncbi. Histopathology findings of hyperkeratotic plaques, and erythematous patches is usually nonspecific and can demonstrate hyperkeratosis, papillomatosis, epidermal hyperplasia and a granular cell layer 23 layers thick. Depending on the extent and severity of erythrokeratodermia variabilis, the skin lesions also can be severely. Soepronos textbook is available on and includes detailed. A systematic approach to dermatopathology by fred f. Progressive symmetric erythrokeratodermia a case report shufeng kan chunghong hu woanruoh lee progressive symmetric erythrokeratodermia psek is a rare disorder of cornification characterized by epidermal hyperproliferation and is inherited as an autosomal dominant trait with variable penetrance. Erythrokeratodermia variabilis ekv is a rare subtype of heterogeneous group of skin diseases called the erythrokeratodermi. Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum betaglucuronidase. Erythrokeratodermia definition of erythrokeratodermia by.
Soeprono teaches and practices dermatopathology at loma linda university, school of medicine, department of dermatology. The lesions are hyperkeratotic and wellmarginated and have a tendency to become confluent. Erythrokeratoderma variabilis progressiva ekvp is a type of. The first is hyperkeratosis, which is rough, thickened skin. Ekv lesions commonly occur in the early stage of life.
Erythrokeratodermia variabilis et progressiva genetic and. Laminated orthokeratosis with sparse parakeratosis. Erythrokeratodermia variabilis ekv are a rare heterogeneous group of. Erythrokeratoderma, sometimes called erythrokeratodermia, is the descriptive name given to a rare group of disorders of keratinisation. Erythrokeratodermia variabilis ekv is a rare genoder matosis. Affected individuals had normal teeth and hair, and the skin lesions were stationary during seasonal or temperature changes, in contrast to erythrokeratodermia variabilis. Erythrokeratodermia variabilis et progressiva ekvp is a skin disorder that is present at birth or becomes apparent in infancy.
Genetic mutations in the gjb3 and gjb4 genes have been noted. Transient, circumscribed, highly variable, figurate erythematous patches, sometimes surrounded by a hypomelanotic halo, involving any part of the skin. It has been associated with mutations in the genes that code for connexins. Fixed plaques of hardened skin also develop independent from the red areas.
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