Kallmann syndrome ks is typically characterized by hypogonadotropic hypogonadism and anosmia. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. Keratoderma hereditarium mutilans vohwinkel syndrome in three siblings. Structural and functional consequences of loricrin mutations. Eckert2,4,5 keratodermas comprise a heterogeneous group of highly debilitating and painful disorders characterized by thickening of the skin with marked hyperkeratosis. Background vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Human genome landmarks oak ridge national laboratory. Vohwinkel syndrome belongs to the group of palmoplantar keratodermas. Pdf vohwinkel syndrome, ichthyosiform variant by camisa. Vohwinkel syndrome secondary to missense mutation d66h in. Vohwinkel syndrome, known as keratoderma hereditaria mutilans, is a syndromic form of diffuse palmoplantar keratoderma ppk that manifests as hyperkeratosis of the palms and soles with a honeycomb appearance.
Vohwinkel syndrome, ichthyosiform variant by camisa case report. We report a missense mutation in the connexin 26 gene gjb2 in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. Vohwinkels syndrome and deafness volume 91 issue 10 d. To access free multiple choice questions on this topic, click here. The cause of the type that is associated with sensorineural hearing loss is thought to result from a mutation of the gjb2 gene that codes for the gap junction protein, connexin26 cx26. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free.
Vohwinkel syndrome, ichthyosiform variant by camisa case. The skin features of bartpumphrey syndrome include hyperkeratotic plaques over knuckles and the dorsal digital joints knuckle pads, leukonychia white nails and palmoplantar keratoderma. Read vohwinkel syndrome mutilating keratoderma associated with craniofacial anomalies, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Vohwinkel syndrome, ichthyosiform variant by camisa. 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 sensorineural deafness. Because of the rare occurrence of this syndrome, many. Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal. Seirafi h, khezri s, morowati s, kamyabhesari k, mirzaeipour m, khezri f. Enable javascript to view the expandcollapse boxes.
Vohwinkel s syndrome and deafness volume 91 issue 10 d. Home test catalog by disorder az vohwinkel syndrome vohwinkel syndrome. A case report for vohwinkel syndrome lww journals wolters. Tsg vohwinkel, former german football club merged into wuppertaler sv.
The sensorineural hearing is mildtomoderate in degree. Kid syndrome is an ectodermal dysplasia affecting the skin, hearing and vision and testing information is provided separately. Dec 18, 2015 vohwinkel syndrome is an inherited condition that affects the skin. As our patient was in the reproductive age she refused any treatment with.
Ali mm, et al variant of vohwinkels syndrome was no evidence of mutation in the loricrin gene. The mutation causes an amino acid substitution g59a, which may disrupt a reverse turn in the first. Vohwinkel syndrome is an inherited condition that affects the skin. Keratoderma hereditarium mutilans vohwinkel syndrome in. The syndrome is inherited in an autosomal dominant manner. Two mutations of the epidermal differentiation complex have been identified in vohwinkel syndrome.
Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany. For language access assistance, contact the ncats public information officer. D66h mutation in gjb2 gene in a chinese family with classical. Drera b, tadini g, balbo f, marchese l, barlati s, colombi m. More detailed information about the symptoms, causes, and treatments of vohwinkel syndrome is available below.
Wuppertalvohwinkel station, a railway station in vohwinkel. The thickening of the skin hyperkeratosis can be mutilating and cause autoamputation of the digits. 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. 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. Surgical correction of pseudoainhum in vohwinkel syndrome.
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. A honeycomb pattern and starlike hyperkeratosis, deafness, spontaneous amputations, and the absence of ichthyosis distinguished it from the autosomal dominant vohwinkel syndrome. It is a rare autosomal dominant palmoplantar keratoderma, which was first described in 1929 by vohwinkel. Vohwinkel syndrome with mental retardation mercy p, singh. Oberlin from the department of orthopaedics and traumatology, hopital bichat, paris, france vohwinkel syndrome or hereditary mutilating keratodermatitis is a rare condition producing palmo plantar hyperkeratosis and constricting rings of the fingers and toes which can progress to. 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. 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. A case report of elective amputation following pseudo. Suppressing ap1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype ellen a. Pdf vohwinkel syndrome belongs to the group of hereditary. Genedx 207 perry parkway gaithersburg, md 20877 toll free. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Vs is characterized by diffuse hyperkeratosis of palms and soles, a honeycomb appearance, starfishlike keratoses, and constriction bands leading to autoamputation of the. 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 pdf is available for free download from a site hosted by medknow publications. Symptomatic treatment of the palmoplantar keratoderma includes topical keratolytic agents such as salicylic acid and urea. 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. 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 with mental retardation mercy p, singh a. One is a missense mutation of the gjb2 gene coding connexin26, a gap junction protein. Vohwinkel syndrome with mental retardation article pdf available in indian journal of dermatology, venereology and leprology 795. 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 mutilating keratoderma associated. Keratoderma hereditarium mutilans vohwinkels syndrome. Structural and functional consequences of loricrin. Hearing loss is also associated with the condition.
Connexin 26 vohwinkel syndrome and kid syndrome are 2 clinically different syndromes both originating with missense mutation for connexin 26 on chrom. In this report, the authors present a case of a fouryearold boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. D66h mutation in gjb2 gene in a chinese family with. Suppressing ap1 factor signaling in the suprabasal.
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. Meyr, dpm facfasb aresident, temple university hospital podiatric surgical residency program, philadelphia, pennsylvania. A connexin 26 mutation causes a syndrome of sensorineural. Keratitisichthyosisdeafness syndrome 148210 is also caused by mutation in gjb2. 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. Because of the rare occurrence of this syndrome, many treatment modalities are not described. Vohwinkel syndrome uncountable a form of palmoplantar keratoderma characterized by a.
Vohwinkel syndrome definition of vohwinkel syndrome by. Omim 124500, also known as mutilating palmoplantar keratoderma, is a rare autosomal dominant skin disease first described by vohwinkel in 1929. We report a rare case of vohwinkels syndrome with ichthyosis. Vohwinkel, wuppertal, a former city, now a district of the city of wuppertal, north rhinewestphalia, germany wuppertal vohwinkel station, a railway station in vohwinkel. So this may be considered as a new variant of vohwinkels syndrome. People with the classic form generally have honeycombpatterned calluses on the palms of the hands and the soles of the feet palmoplantar keratoses. Vohwinkel syndrome symptoms, diagnosis, treatments and.
Vohwinkel syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. A form of palmoplantar keratoderma characterized by a honeycomb pattern, sometimes associated with hearing loss. Jan 01, 2010 background vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Variant of keratoderma hereditaria mutilans vohwinkels. 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 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. It is caused by mutation in the gjb2 gene connexin 26.
Diffuse palmoplantar keratoderma associated with other abnormalities deafness. The constrictions ultimately led to autoamputation. Vohwinkel syndrome, variant form conditions gtr ncbi. Vohwinkel syndrome mutilating keratoderma associated with. Serrano castro, cristina naranjo fernandez, pablo quiroga subirana, manuel payan ortiz hospital torrecardenas, neurology and neurophysiology unit, almeria, spain 1. A case report of elective amputation following pseudoainhum. Springer nature is making sarscov2 and covid19 research free. There are thought to be 2 different forms of vohwinkels syndrome. Another major aspect of treatment is aimed at releasing the digital. 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 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.
Diffuse hereditary palmoplantar keratodermas dermnet nz. A case report of elective amputation following pseudoainhum secondary to vohwinkel syndrome hyun w. Other organs and tissues are less commonly affected. This means that vohwinkel syndrome, or a subtype of vohwinkel syndrome, affects less than 200,000 people in the us population. 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. Vohwinkel syndrome secondary to missense mutation d66h in gjb2 gene connexin 26 can include epileptic manifestations pedro j. Tyr65his is found to be associated with severe vohwinkel syndrome. Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more. Vohwinkel syndrome is a palmoplantar keratosis inherited in an autosomal dominant fashion caused by mutations in the connexin 26 gene. Gtr test id help each test is a specific, orderable test from a particular laboratory, and is assigned a unique gtr accession number. It is a rare autosomal dominant ppk, which was first described in 1929 by vohvinkel 4. The presence of a defective sense of smell, whether partial hyposmia or complete anosmia distinguishes ks from normosmic idiopathic hypogonadotropic hypogonadism with a normal sense of smell nihh, which can be associated with mutations in the gnrhr and gpr54 genes. Vohwinkels syndrome in three generations sciencedirect.
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies vohwinkels syndrome skip to main content thank you for visiting. In 1929, vohwinkel first described this syndrome in a 24yearold woman who, since age 2 years, had a diffuse honeycombed palmar and. Vohwinkel syndrome symptoms, diagnosis, treatments and causes. Keratitisichthyosisdeafness syndrome is also caused by mutation in gjb2. There are thought to be 2 different forms of vohwinkel s syndrome. Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. 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 sensorineural deafness. After each surgery, the patient received a hyperbaric oxygen treatment to. If you have problems viewing pdf files, download the latest version of adobe reader. Targeted epidermal expression of mutant connexin 26d66h. Affected children also typically have distinctive starfishshaped patches of thickened. A variant form of vohwinkel syndrome is caused by a mutation in the loricrin gene on chromosome 1.
A genetic disorder characterized by hearing loss and thickened skin, particularly on the knuckles. 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. Vohwinkel schwebebahn, a railway station on the wuppertal schwebebahn. 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. Keratoderma hereditarium mutilans vohwinkel syndrome m. Browse az genetic and rare diseases information center. 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. Watson skip to main content accessibility help we use cookies to distinguish you from other users and to provide you with a better experience on our websites.
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