In vohwinkels report, a mother and daughter were affected. Audiometry testing was not available for the child, but like his mother, he was. Keratoderma hereditaria mutilans khm, or vohwinkels syndrome, is a rare genodermatosis consisting of hyperkeratosis of the palms and soles with a characteristic honeycomb appearance, keratotic structures taking the shape of a starfish andor knuckle pads on the dorsal surfaces of the hands, and constricting bands pseudoainhum encircling digits of the hands and feet. Vohwinkel syndrome secondary to missense mutation d66h in. As our patient was in the reproductive age she refused any treatment with. Surgical correction of constrictive bands in vohwinkel syndrome. A novel missense mutation in gjb2 disturbs gap junction. Keratitisichthyosisdeafness syndrome is also caused by mutation in gjb2. Keratoderma hereditarium mutilans vohwinkels syndrome ijpd. Vohwinkel syndrome, variant form conditions gtr ncbi. Vohwinkel syndrome belongs to the group of palmoplantar keratodermas.
Structural and functional consequences of loricrin mutations. Keratoderma hereditarium mutilans vohwinkel s syndrome this is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. Introduction vohwinkel syndrome, also known as hereditary mutilating keratoderma, was initially described by vohwinkel in 1929 and is a rare palmoplantar keratoderma that begins in childhood and becomes more evident in adolescence and adulthood 1. Vohwinkel syndrome symptoms, diagnosis, treatments and causes. Stickler syndrome, type iii marshall syndrome stargardt disease retinitis pigmentosa conerod dystrophy macular dystrophy, agerelated fundus flavimaculatus hypothyroidism, nongoitrous exostoses, multiple pheochromocytoma psoriasis susceptibility limbgirdle muscular dystrophy, autosomal dominant pycnodysostosis vohwinkel syndrome with ichthyosis.
Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually at the fifth, and starfish. Download fulltext pdf vohwinkel syndrome with mental retardation article pdf available in indian journal of dermatology, venereology and leprology 795. Browse az genetic and rare diseases information center. Vohwinkel syndrome is an autosomal dominant keratoderma associated with starfishshaped thickening over knuckles, tight bands forming around fingers which sometimes result in amputation of the finger or toe affected pseudoainhum, and deafness. Diffuse palmoplantar keratoderma associated with other abnormalities deafness. So this may be considered as a new variant of vohwinkels syndrome. Pseudoainhum constricting bands and autoamputation of digits may occur.
Vohwinkel syndrome uncountable a form of palmoplantar keratoderma characterized by a honeycomb pattern, sometimes associated with hearing loss. Missense mutation in connexin26, d66h, causes mutilating. It is a rare autosomal dominant ppk, which was first described in 1929 by vohvinkel 4. Keratoderma hereditaria mutilans khm, or vohwinkels syndrome, is a rare genodermatosis consisting of hyperkeratosis of the palms and soles with a characteristic honeycomb appearance, keratotic structures taking the shape of a starfish andor knuckle pads on the dorsal surfaces of the hands. Vohwinkel syndrome is an inherited condition that affects the skin. Structural and functional consequences of loricrin mutations in human loricrin keratoderma vohwinkel syndrome with ichthyosis matthias schmuth, 1 joachim w.
It tends to be symptomatic and may vary from simple measures, such as saltwater soaks and paring. It has been reported sparingly from all over the world. Vohwinkel syndrome vs is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. Vohwinkel syndrome is caused by a mutation in the gjb2 gene connexin26. Treatment vohwinkel syndrome rare disease limited options topical. Vohwinkels syndrome or keratoderma hereditaria mutilans is a diffuse.
Because of the rare occurrence of this syndrome, many treatment. Serrano castro, cristina naranjo fernandez, pablo quiroga subirana, manuel payan ortiz hospital torrecardenas, neurology and neurophysiology unit, almeria, spain 1. They consist of connexins, small transmembrane proteins that belong to a large family found throughout the animal kingdom. Vohwinkel syndrome is a dhppk of dominant autosomal transmission with onset at an early age.
A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to selfamputation of the digit. Wuppertalvohwinkel station, a railway station in vohwinkel. Hearing loss is also associated with the condition. Background vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually at the fifth, and starfish. Although loricrin is the predominant protein of the cornified envelope ce in keratinocytes, loss or gain of loricrin function in mouse models produces only modest skin phenotypes.
Approximately 50 cases have been reported in the literature with only three having been managed surgically. Classic vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfishlike acral keratoses, and moderate degrees of sensorineural deafness summary by maestrini et al. Bartpumphrey syndrome bps is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. Structural and functional consequences of loricrin. Inherited ichthyosesgeneralized mendelian disorders of. Short reports a connexin 26 mutation causes a syndrome of. The thickening of the skin hyperkeratosis can be mutilating and cause autoamputation of the digits. In the skin, several connexins are expressed and are involved in the regulation of epidermal growth and differentiation. A case report of elective amputation following pseudoainhum. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for vohwinkel syndrome.
Keratoderma hereditarium mutilans vohwinkel syndrome in. It is caused by mutation in the gjb2 gene connexin 26. Drera b, tadini g, balbo f, marchese l, barlati s, colombi m. Keratoderma hereditarium mutilans vohwinkels syndrome.
Browse the gard list of rare diseases and related terms to find topics of interest to you. The dermatologic features associated with deafness and gjb2 mutations are also variable. Vohwinkel syndrome, also known as hereditary mutilating keratoderma, was initially described by vohwinkel in 1929 and is a rare palmoplantar keratoderma that begins in childhood and becomes more evident in adolescence and adulthood 1. Meyr, dpm facfasb aresident, temple university hospital podiatric surgical residency program, philadelphia, pennsylvania bclinical associate professor and residency program director, department of podiatric surgery, temple university school of podiatric medicine. More detailed information about the symptoms, causes, and treatments of vohwinkel syndrome is available below. This list includes the main name for each condition, as well as alternate names. Dec 19, 2018 vohwinkel syndrome vs is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The syndrome is inherited in an autosomal dominant manner. Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness.
Scleroatrophic syndrome of huriez also known as huriez syndrome, palmoplantar keratoderma with scleroatrophy, palmoplantar keratoderma with sclerodactyly, scleroatrophic and keratotic dermatosis of the limbs, and sclerotylosis is an autosomal dominant keratoderma with sclerodactyly present at birth with a diffuse symmetric. Pdf vohwinkel syndrome, ichthyosiform variant by camisa. It is considered to have an autosomal dominant inheritance, although sporadic cases 1, 2 and a case of probable autosomal recessive inheritance 3 have also been described. George bakirtzis, rukhsana choudhry, trond aasen, leonard shore, ken brown, sheila bryson, stephen forrow, laurence tetley, malcolm finbow, david greenhalgh, malcolm hodgins, targeted epidermal expression of mutant connexin 26d66h mimics true vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders, human molecular genetics. A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles. P450c11b1 deficiency, see congenital adrenal hyperplasia due to 11beta. We have identified linkage of vohwinkels syndrome in an extended pedigree to markers flanking the edc region with a maximum multipoint lod score of 14. Human genome landmarks oak ridge national laboratory. Vohwinkel syndrome, ichthyosiform variant by camisa. Vohwinkels syndrome is an autosomal dominant type of palmoplantar. The most frequently reported genetic substrate is a point mutation of gjb2 gene, responsible for encoding connexin 26 at locus q11q12. Keratoderma hereditarium mutilans vohwinkel syndrome m. Background vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Vohwinkels syndrome in three generations sciencedirect.
Connexin 26 vohwinkel syndrome and kid syndrome are 2 clinically different syndromes both originating with missense mutation for connexin 26 on chrom. Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. The clinical features partially overlap with vohwinkel syndrome and keratitisichthyosisdeafness syndrome, both disorders caused by dominant mutations in the gjb2 gene encoding. Erythrokeratoderma en cocardes with r32w mutation in gjb3. However, classification of ppks often is confounded by clinical overlap between genetically distinct entities, and pseudoainhum is found in several other. Pdf vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal. Diffuse hereditary palmoplantar keratodermas dermnet nz. Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany wuppertal vohwinkel station, a railway station in vohwinkel.
One of the skin expressed gap junction genes is gjb2, which. The clinical features partially overlap with vohwinkel syndrome and keratitisichthyosisdeafness syndrome, both disorders caused by dominant mutations in the gjb2. People with the classic form generally have honeycombpatterned calluses on the palms of the hands and the soles of the feet palmoplantar keratoses. A case report of elective amputation following pseudoainhum secondary to vohwinkel syndrome hyun w. The constrictions ultimately led to autoamputation. Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles autosomal recessive and dominant, xlinked, and acquired forms have all been described. This preferentially autosomal dominant disease more commonly affects women and caucasians. One of the identifiable characteristics of the disorder is the. Targeted epidermal expression of mutant connexin 26d66h.
A variant form of vohwinkel syndrome is caused by a mutation in the loricrin gene on chromosome 1. Audiometry testing was not available for the child, but like his mother, he was affected with congenital hearing loss. Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin in the classic form of vohwinkel syndrome, affected individuals have thick, honeycomblike calluses on the palms of the hands and soles of the feet palmoplantar keratoses beginning in infancy or early childhood. Affected children also typically have distinctive starfishshaped patches of thickened.
Variant of keratoderma hereditaria mutilans vohwinkels. The treatment of all types of hereditary keratoderma is difficult. In contrast, insertional mutations resulting in a frameshift in the cterminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. What is a connexin a protein which is the building blocks that forms channels in gap junctions facilitates small molecules between cells important intercellular connections. The lor and gjb2 genes are reported to be responsible for vs. Expanding the phenotypic spectrum of cx26 disorders. Keratoderma hereditarium mutilans vohwinkel syndrome in three. Since then, variants of the condition, including cataractsalopeciasclerodactyly, vohwinkel disease with ca universalis, alves syndrome, and keratodermahypotrichosisleukonychia totalis, have been described in multiple families. Vohwinkel syndrome symptoms, diagnosis, treatments and. In vohwinkel s report, a mother and daughter were affected. Threeyearold patient with thickening of proximal nailfolds. In the classic form of vohwinkel syndrome, affected individuals have thick, honeycomblike calluses on the palms of the hands and soles of the feet palmoplantar keratoses beginning in infancy or early childhood.
Vohwinkel schwebebahn, a railway station on the wuppertal schwebebahn. Pdf keratoderma hereditarium mutilans vohwinkel syndrome in. Resolution of pseudoainhum with acitretin therapy in a. Surgical correction of constrictive bands in vohwinkel. If you have problems viewing pdf files, download the latest version of adobe. Moderate sensorineural deafness was also a feature in this family, as in most other clear cases of vohwinkels syndrome vs. Variant vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance. Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany. Camisa disease is a rare variant of vohwinkels syndrome associated with generalized ichthyosis and without deafness. Inherited ichthyoses, defined as the generalized form of mendelian disorders of cornification, are characterized by visible scaling andor hyperkeratosis of most or all of the skin. The skin features of bartpumphrey syndrome include. The sensorineural hearing is mildtomoderate in degree. Vohwinkel syndrome secondary to missense mutation d66h in gjb2 gene connexin 26 can include epileptic manifestations pedro j. It is usually accompanied by skeletal dimorphisms in the distal toe phalanxes and sensorineural deafness.
In others there is later onset hearing loss of moderate degree. If you have problems viewing pdf files, download the latest version of. The gjb2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. Vohwinkel syndrome uncountable a form of palmoplantar keratoderma characterized by a honeycomb pattern, sometimes associated. Vohwinkel syndrome definition of vohwinkel syndrome by. Vohwinkel s syndrome is an autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to autoamputation, stellate keratosis on knuckles, and associated with mild sensorineural deafness. Enable javascript to view the expandcollapse boxes. Jul 15, 2003 george bakirtzis, rukhsana choudhry, trond aasen, leonard shore, ken brown, sheila bryson, stephen forrow, laurence tetley, malcolm finbow, david greenhalgh, malcolm hodgins, targeted epidermal expression of mutant connexin 26d66h mimics true vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders, human molecular genetics, volume 12, issue 14, 15 july. Dec 18, 2015 vohwinkel syndrome is an inherited condition that affects the skin. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. G59s mutation in the gjb2 gene in a chinese family with. Crumrine, yoshikazu uchida, jeanpierre hachem, 3 martin behne, david g. In 1929, vohwinkel first described this syndrome in a 24yearold woman who, since age 2 years, had a diffuse honeycombed palmar and plantar keratosis, in addition to distal interphalangeal creases. This means that vohwinkel syndrome, or a subtype of vohwinkel syndrome, affects less than 200,000 people in the us population.
Meyr, dpm facfasb aresident, temple university hospital podiatric surgical residency program, philadelphia, pennsylvania. Pdf vohwinkel syndrome or keratoderma hereditaria mutilans is a rare, diffuse, honeycombed, palmar and plantar. Sep 04, 20 connexin 26 vohwinkel syndrome and kid syndrome are 2 clinically different syndromes both originating with missense mutation for connexin 26 on chrom. It is considered to have an autosomal dominant inheritance, although sporadic cases 1, 2 and a case of probable autosomal recessive inheritance 3 have also been described connexins 26, 30, 30. Vohwinkel syndrome, known as keratoderma hereditaria mutilans, is a syndromic form of diffuse ppk that manifests as hyperkeratosis of the palms and soles with a honeycomb appearance. Keratoderma hereditarium mutilans, or vohwinkel syndrome, is a very rare genetic skin condition which causes palmoplantar hyperkeratosis and constricting rings of the fingers and toes. Vohwinkel syndrome is a palmoplantar keratosis inherited in an autosomal dominant fashion caused by mutations in the connexin 26 gene. A honeycomb pattern and starlike hyperkeratosis, deafness, spontaneous amputations, and the absence of ichthyosis distinguished it from the autosomal dominant vohwinkel syndrome. Tsg vohwinkel, former german football club merged into wuppertaler sv. Moderate sensorineural deafness was also a feature in this family, as in most other clear cases of vohwinkel s syndrome vs. A case report of elective amputation following pseudo. This pdf is available for free download from a site hosted by medknow publications. Vohwinkel syndrome genetic and rare diseases information.
Ali mm, et al variant of vohwinkels syndrome was no evidence of mutation in the loricrin gene. Gap junctions are intercellular channels that mediate rapid intercellular communication. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. Vohwinkel syndrome secondary to missense mutation d66h. Vohwinkel syndrome, ichthyosiform variant by camisa case. Vohwinkels syndrome is an autosomal dominant type of palmoplantar keratoderma characterized by honeycomb appearance, pseudoainhum leading to autoamputation, stellate keratosis on knuckles, and associated with mild sensorineural deafness.
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