Audiometry testing was not available for the child, but like his mother, he was. Surgical correction of constrictive bands in vohwinkel syndrome. 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. Pdf vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal. Pdf vohwinkel syndrome or keratoderma hereditaria mutilans is a rare, diffuse, honeycombed, palmar and plantar. Vohwinkel syndrome is caused by a mutation in the gjb2 gene connexin26. Diffuse palmoplantar keratoderma associated with other abnormalities deafness. Expanding the phenotypic spectrum of cx26 disorders.
Download fulltext pdf vohwinkel syndrome with mental retardation article pdf available in indian journal of dermatology, venereology and leprology 795. Pseudoainhum constricting bands and autoamputation of digits may occur. Keratoderma hereditarium mutilans vohwinkel syndrome in three. This preferentially autosomal dominant disease more commonly affects women and caucasians. Affected children also typically have distinctive starfishshaped patches of thickened.
Keratitisichthyosisdeafness syndrome is also caused by mutation in gjb2. Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. Variant vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance. Targeted epidermal expression of mutant connexin 26d66h. A case report of elective amputation following pseudoainhum secondary to vohwinkel syndrome hyun w.
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. The thickening of the skin hyperkeratosis can be mutilating and cause autoamputation of the digits. Moderate sensorineural deafness was also a feature in this family, as in most other clear cases of vohwinkels syndrome vs. Vohwinkels syndrome in three generations sciencedirect. 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. Moderate sensorineural deafness was also a feature in this family, as in most other clear cases of vohwinkel s syndrome vs. Vohwinkel syndrome is an inherited condition that affects the skin. A honeycomb pattern and starlike hyperkeratosis, deafness, spontaneous amputations, and the absence of ichthyosis distinguished it from the autosomal dominant vohwinkel syndrome. One of the identifiable characteristics of the disorder is the. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for vohwinkel syndrome. Camisa disease is a rare variant of vohwinkels syndrome associated with generalized ichthyosis and without deafness. A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles. Vohwinkel syndrome is a palmoplantar keratosis inherited in an autosomal dominant fashion caused by mutations in the connexin 26 gene. Vohwinkel syndrome, ichthyosiform variant by camisa.
It has been reported sparingly from all over the world. Dec 19, 2018 vohwinkel syndrome vs is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. Vohwinkel syndrome belongs to the group of palmoplantar keratodermas. Ali mm, et al variant of vohwinkels syndrome was no evidence of mutation in the loricrin gene. Surgical correction of constrictive bands in vohwinkel. 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. As our patient was in the reproductive age she refused any treatment with. 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. The treatment of all types of hereditary keratoderma is difficult.
Serrano castro, cristina naranjo fernandez, pablo quiroga subirana, manuel payan ortiz hospital torrecardenas, neurology and neurophysiology unit, almeria, spain 1. Short reports a connexin 26 mutation causes a syndrome of. Dec 18, 2015 vohwinkel syndrome is an inherited condition that affects the skin. It is usually accompanied by skeletal dimorphisms in the distal toe phalanxes and sensorineural deafness. Vohwinkel syndrome secondary to missense mutation d66h. Vohwinkel syndrome is a dhppk of dominant autosomal transmission with onset at an early age. Treatment vohwinkel syndrome rare disease limited options topical. 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. Pdf keratoderma hereditarium mutilans vohwinkel syndrome in. Audiometry testing was not available for the child, but like his mother, he was affected with congenital hearing loss. The most frequently reported genetic substrate is a point mutation of gjb2 gene, responsible for encoding connexin 26 at locus q11q12. However, classification of ppks often is confounded by clinical overlap between genetically distinct entities, and pseudoainhum is found in several other.
Wuppertalvohwinkel station, a railway station in vohwinkel. So this may be considered as a new variant of vohwinkels syndrome. In vohwinkels report, a mother and daughter were affected. Browse the gard list of rare diseases and related terms to find topics of interest to you. This pdf is available for free download from a site hosted by medknow publications. Structural and functional consequences of loricrin. 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. In others there is later onset hearing loss of moderate degree. Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany wuppertal vohwinkel station, a railway station in vohwinkel.
Missense mutation in connexin26, d66h, causes mutilating. Structural and functional consequences of loricrin mutations in human loricrin keratoderma vohwinkel syndrome with ichthyosis matthias schmuth, 1 joachim w. Vohwinkel syndrome uncountable a form of palmoplantar keratoderma characterized by a honeycomb pattern, sometimes associated with hearing loss. It tends to be symptomatic and may vary from simple measures, such as saltwater soaks and paring. G59s mutation in the gjb2 gene in a chinese family with. Resolution of pseudoainhum with acitretin therapy in a. More detailed information about the symptoms, causes, and treatments of vohwinkel syndrome is available below. Because of the rare occurrence of this syndrome, many treatment. Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany.
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. 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. 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. It is caused by mutation in the gjb2 gene connexin 26. Since then, variants of the condition, including cataractsalopeciasclerodactyly, vohwinkel disease with ca universalis, alves syndrome, and keratodermahypotrichosisleukonychia totalis, have been described in multiple families. 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. Vohwinkel schwebebahn, a railway station on the wuppertal schwebebahn.
Vohwinkels syndrome or keratoderma hereditaria mutilans is a diffuse. The sensorineural hearing is mildtomoderate in degree. Keratoderma hereditarium mutilans vohwinkel syndrome m. Vohwinkel syndrome, variant form conditions gtr ncbi. In vohwinkel s report, a mother and daughter were affected. 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.
This list includes the main name for each condition, as well as alternate names. A case report of elective amputation following pseudo. Aug, 2019 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. 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. Enable javascript to view the expandcollapse boxes. Drera b, tadini g, balbo f, marchese l, barlati s, colombi m.
Diffuse hereditary palmoplantar keratodermas dermnet nz. Gap junctions are intercellular channels that mediate rapid intercellular communication. Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. 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. 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. 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. The skin features of bartpumphrey syndrome include. 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. The constrictions ultimately led to autoamputation. 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. A novel missense mutation in gjb2 disturbs gap junction. Browse az genetic and rare diseases information center.
Keratoderma hereditarium mutilans vohwinkels syndrome ijpd. Tsg vohwinkel, former german football club merged into wuppertaler sv. Vohwinkel syndrome, also known as keratoderma hereditarian mutilans. In the skin, several connexins are expressed and are involved in the regulation of epidermal growth and differentiation. Vohwinkel syndrome, ichthyosiform variant by camisa case. Bartpumphrey syndrome bps is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. Connexin 26 vohwinkel syndrome and kid syndrome are 2 clinically different syndromes both originating with missense mutation for connexin 26 on chrom. 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. The lor and gjb2 genes are reported to be responsible for vs.
A case report of elective amputation following pseudoainhum. Erythrokeratoderma en cocardes with r32w mutation in gjb3. 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. Pdf vohwinkel syndrome, ichthyosiform variant by camisa. Background vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. They consist of connexins, small transmembrane proteins that belong to a large family found throughout the animal kingdom. Variant of keratoderma hereditaria mutilans vohwinkels. 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 symptoms, diagnosis, treatments and. 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. Keratoderma hereditarium mutilans vohwinkels syndrome. Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. This means that vohwinkel syndrome, or a subtype of vohwinkel syndrome, affects less than 200,000 people in the us population. It is a rare autosomal dominant ppk, which was first described in 1929 by vohvinkel 4. 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. Vohwinkel syndrome symptoms, diagnosis, treatments and causes. The dermatologic features associated with deafness and gjb2 mutations are also variable. Threeyearold patient with thickening of proximal nailfolds. 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. One of the skin expressed gap junction genes is gjb2, which. 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.
Meyr, dpm facfasb aresident, temple university hospital podiatric surgical residency program, philadelphia, pennsylvania. 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. 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. Human genome landmarks oak ridge national laboratory. Vohwinkel syndrome definition of vohwinkel syndrome by. 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. Keratoderma hereditarium mutilans vohwinkel syndrome in. People with the classic form generally have honeycombpatterned calluses on the palms of the hands and the soles of the feet palmoplantar keratoses. The clinical features partially overlap with vohwinkel syndrome and keratitisichthyosisdeafness syndrome, both disorders caused by dominant mutations in the gjb2. Structural and functional consequences of loricrin mutations. If you have problems viewing pdf files, download the latest version of adobe.
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. Vohwinkel syndrome secondary to missense mutation d66h in. The clinical features partially overlap with vohwinkel syndrome and keratitisichthyosisdeafness syndrome, both disorders caused by dominant mutations in the gjb2 gene encoding. Vohwinkels syndrome is an autosomal dominant type of palmoplantar. 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. Hearing loss is also associated with the condition. Approximately 50 cases have been reported in the literature with only three having been managed surgically. Crumrine, yoshikazu uchida, jeanpierre hachem, 3 martin behne, david g. 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.
P450c11b1 deficiency, see congenital adrenal hyperplasia due to 11beta. If you have problems viewing pdf files, download the latest version of. Vohwinkel syndrome vs is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. Vohwinkel syndrome secondary to missense mutation d66h in gjb2 gene connexin 26 can include epileptic manifestations pedro j. Vohwinkel syndrome genetic and rare diseases information. The gjb2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues.
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