{"orpha":307936,"name":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HOPP syndrome","Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome","Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome","Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome"],"definition":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-307936/","orphanet_url":"https://www.orpha.net/en/disease/detail/307936","names":{"fr":{"name":"Syndrome d'hypotrichose-ostéolyse-périodontite-kératodermie palmoplantaire","synonyms":["Syndrome HOPP","Syndrome d'hypotrichose-hyperkératose palmoplantaire-acro-ostéolyse-périodontite","Syndrome d'hypotrichose-kératodermie palmoplantaire-acro-ostéolyse-périodontite","Syndrome d'hypotrichose-ostéolyse-périodontite-hyperkératose palmoplantaire"],"definition":"Le syndrome d'hypotrichose-ostéolyse-périodontite-kératodermie palmoplantaire est une dysplasie ectodermique extrêmement rare caractérisée par une hypotrichose universelle avec une alopécie cicatricielle légère à sévère, une acro-ostéolyse, une onychogryphose, des empreintes digitales fines et effilées, une périodontie et des caries conduisant à une perte prématurée des dents, une kératodermie palmoplantaire linéaire ou réticulée, ainsi que des lésions cutanées de type psoriasis, desquamantes et érythémateuses sur les bras et les jambes. Une langue plicaturée et une tachycardie ventriculaire ont aussi été observées."},"de":{"name":"Hypotrichosis-Osteolysis-Periodontitis-Palmoplantarkeratose-Syndrom","synonyms":["HOPP-Syndrom","Hypotrichose-Keratosis palmoplantaris striata-Akroosteolyse-Periodontitis-Syndrom"],"definition":"Ein extrem seltene ektodermale Dysplasie, die charakterisiert ist durch das Auftreten von Hypotrichosis universalis mit leichter bis schwerer narbiger Alopezie, Akroosteolyse, Onychogryphose, dünne und spitz zulaufende Fingerkuppen, Parodontitis und Karies (die zu vorzeitigem Zahnverlust führen), lineare oder retikuläre palmoplantare Keratodermie und erythematöse, schuppende, psoriasisähnliche Hautläsionen an Armen und Beinen. Lingua plicata und ventrikuläre Tachykardie sind ebenfalls beobachtet worden."},"es":{"name":"Síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar","synonyms":["Síndrome HOPP","Síndrome de hipotricosis-hiperqueratosis palmoplantar estriada-acrooestólisis-periodontitis","Síndrome de hipotricosis-osteólisis-periodontitis-hiperqueratosis palmoplantar","Síndrome de hipotricosis-queratodermia palmoplantar estriada-acrooestólisis-periodontitis"],"definition":"El síndrome de hipotricosis-osteólisis-periodontitis-queratodermia palmoplantar es un síndrome de displasia ectodérmica extremadamente infrecuente caracterizado por hipotricosis universal con alopecia cicatricial leve o grave, acroosteólisis, onicogrifosis, puntas de los dedos finas y afiladas, periodontitis y caries que conducen a la pérdida prematura de los dientes, queratodermia palmoplantar lineal o reticular y lesiones cutáneas eritematosas psoriasiformes con descamación en brazos y piernas. Asimismo, se ha asociado a lengua plicata y taquicardia venticular."},"it":{"name":"Sindrome ipotricosi-osteolisi-periodontite-cheratoderma palmoplantare","synonyms":["Sindrome HOPP","Sindrome ipotricosi-cheratoderma palmoplantare striato-acroosteolisi-periodontite","Sindrome ipotricosi-ipercheratosi palmoplantare striato-acroosteolisi-periodontite","Sindrome ipotricosi-osteolisi-periodontite-ipercheratosi palmoplantare"],"definition":"La sindrome ipotricosi-osteolisi-periodontite-cheratoderma palmoplantare è una displasia ectodermica molto rara, caratterizzata da ipotricosi universale con alopecia cicatriziale lieve o grave, acroosteolisi, onicogrifosi, estremità delle dita sottili e affusolate, periodontite e carie che esitano nella perdita prematura dei denti, cheratoderma palmoplantare lineare o reticolare e lesioni cutanee eritematose, desquamate, che ricordano la psoriasi sulle braccia e sulle gambe. Possono associarsi anche la lingua plicata e la tachicardia ventricolare."},"nl":{"name":"Hypotrichose-osteolyse-periodontitis-palmoplantaire keratodermie-syndroom","synonyms":["HOPP-syndroom","Hypotrichose-gestreepte palmoplantaire hyperkeratose-acro-osteolyse-periodontitis-syndroom","Hypotrichose-gestreepte palmoplantaire keratodermie-acro-osteolyse-periodontitis-syndroom","Hypotrichose-osteolyse-periodontitis-palmoplantaire hyperkeratose-syndroom"],"definition":"Hypotrichose - osteolyse - periodontitis - palmoplantaire keratodermie-syndroom is een uiterst zeldzaam ectodermale dysplasie-syndroom dat gekarakteriseerd wordt door hypotrichosis universalis met alopecie met milde tot ernstige littekenvorming, acro-osteolyse, onychogryfose, dunne en conische vingertoppen, periodontitis en cariës die leiden tot vroegtijdig tandverlies, lineaire of reticulaire palmoplantaire keratodermie en erythemateuze, schilferende, psoriasis-achtige huidletsels op armen en benen. Lingua plicata en ventriculaire tachycardie werden ook waargenomen."},"pt":{"name":"Síndrome de hipotricose-osteólise-periodontite-queratodermia palmoplantar","synonyms":["Síndrome de hipotricose-osteólise-periodontite-hiperqueratose palmoplantar"]},"pl":{"name":"Zespół hipotrichoza-osteoliza-zapalenie przyzębia-rogowiec dłoniowo-podeszwowy","synonyms":["Zespół hipotrichoza-osteoliza-zapalenie przyzębia-hiperkeratoza dłoniowo-podeszwowa","Zespół HOPP"]},"cs":{"name":"Syndrom zahrnující hypotrichózu, osteolýzu, periodontitis a palmoplantární keratoderma","synonyms":["HOPP syndrom","Syndrom zahrnující hypotrichózu, osteolýzu, periodontitis a palmoplantární hyperkeratózu"]},"uk":{"name":"Синдром гіпотрихозу-остеолізу-періодонтиту-пальмоплантарної кератодермії","synonyms":["HOPP-синдром","Синдром гіпотрихозу-остеолізу-періодонтиту-пальмоплантарного гіперкератозу","Синдром гіпотрихозу - смугастого долонно-підошовного гіперкератозу - акроостеолізу - пародонтиту","Синдром гіпотрихозу - смугастої долонно-підошовної кератодермії - акроостеолізу - пародонтиту"],"definition":"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed."},"zh":{"name":"少毛症-骨质溶解-牙周炎-掌跖角化综合征","synonyms":["少毛症-骨质溶解-牙周炎-掌跖角化综合征"],"definition":"少毛-溶骨-牙周炎-掌跖角化综合征是一种极为罕见的外胚层发育不良综合征，其特征为全身少毛伴轻至重度瘢痕性脱发，肢端骨溶解，甲真菌病，指尖变细，牙周炎，龋齿伴牙齿过早脱落，四肢的线状或网状掌跖角化病和红斑、鳞屑、银屑病样皮损，也可以表现难为皱襞舌和室性心动过速。"},"tr":{"name":"Hipotrikoz-osteoliz-periodontitis-palmoplantar keratoderma sendromu","synonyms":["Hipotrikoz-çizgili palmoplantar keratoderma-akroosteolizis-periodontitis sendromu","Hipotrikoz-çizgili palmoplantar hiperkeratoz-akroosteoliz-periodontitis sendromu","HOPP sendromu","Hipotrikoz-osteoliz-periodontitis-palmoplantar hiperkeratoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"607658","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1542127981"},{"source":"MONDO","code":"0011884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843285","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98353,"name":"Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12207605[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"12207605[PMID]"}],"phenotypes":null}