{"orpha":91414,"name":"Pilomatrixoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epithelioma calcificans of Malherbe","Pilomatricoma"],"definition":"Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91414/","orphanet_url":"https://www.orpha.net/en/disease/detail/91414","names":{"fr":{"name":"Pilomatrixome","synonyms":["Pilomatricome","Tumeur calcifiée de Malherbe"],"definition":"Tumeur rare et bénigne dérivée des cellules ciliées, survenant principalement chez les jeunes adultes (généralement âgés de moins de 20&nbsp;ans) caractérisée par une tumeur dermique ou sous-cutanée profonde, solitaire, indolore, ferme, mobile, mesurant de 3 à 30&nbsp;mm, généralement localisée au niveau de la tête, du cou ou des membres supérieures. Lorsqu'elle est superficielle, la tumeur apparaît sous forme d'une coloration rouge bleutée de la peau. Des pilomatrixomes multiples sont observés dans la dystrophie myotonique, le syndrome de Gardner, le syndrome de Rubinstein-Taybi et le syndrome de Turner."},"de":{"name":"Pilomatrixom","synonyms":["Epithelioma calcificans Malherbe"],"definition":"Ein Pilomatrixom ist ein seltener und gutartiger Haarzell-Tumor, der hauptsächlich bei jungen Erwachsenen (normalerweise mit unter 20 Jahren) auftritt und als ein 3-30mm großer, schmerzloser, fester, beweglicher, tiefer dermaler oder subkutaner Tumor charakterisiert ist, der am häufigsten am Kopf, Hals oder den oberen Extremitäten auftritt. Wenn oberflächlich, färben die Tumore die Haut blau-rot. Multiple Pilomatrixome sind bei der Myotonen Dystrophie, dem Gardner-Syndrom, dem Rubinstein-Taybi-Syndrom und dem Turner-Syndrom zu beobachten (s. dort)."},"es":{"name":"Pilomatrixoma","synonyms":["Epitelioma calcificante de Malherbe"],"definition":"Es un tumor benigno poco frecuente derivado de las células pilosas que se desarrolla mayoritariamente en adultos jóvenes (por lo general antes de los 20 años de edad). Se caracteriza por ser un tumor aislado, no doloroso, firme y móvil, de 3-30 mm, situado en la dermis profunda o en el tejido subcutáneo y que se encuentra con mayor frecuencia en la cabeza, cuello y extremidades superiores. Cuando es superficial, la piel presenta una coloración violácea. Se han descrito pilomatrixomas múltiples en la distrofia miotónica, el síndrome de Gardner, el síndrome de Rubinstein-Taybi, y el síndrome de Turner."},"it":{"name":"Pilomatrixoma","synonyms":["Epitelioma calcificante di Malherbe"],"definition":"Il pilomatrixoma è un tumore raro e benigno derivato dalle cellule pilifere, che interessa per lo più i giovani adulti (di solito prima dei 20 anni). E' caratterizzato dalla presenza di una massa isolata nel sottocutaneo o nella cute profonda, delle dimensioni di 3-30 mm, indolore, solida e mobile, di solito localizzata sulla testa, sul collo o sugli arti superiori. Quando i tumori sono superficiali, la cute assume un colore rosso-bluastro. I pilomatrixomi multipli possono associarsi alla distrofica miotonica, alla sindrome di Gardner, di Rubinstein-Taybi e di Turner (si vedano questi termini)."},"nl":{"name":"Pilomatrixoom","synonyms":["Pilomatricoom","Epithelioma calcificans van Malherbe"],"definition":"Pilomatrixoom is een zeldzame en goedaardige tumor afgeleid van haarcellen die meestal voorkomt bij jonge volwassenen (meestal jonger dan 20 jaar) en die gekarakteriseerd wordt door een 3-30 mm grote, solitaire, pijnloze, stevige, mobiele, diep dermale of subcutane tumor, doorgaans in het hoofd, de nek/hals of de bovenste ledematen. Indien ze oppervlakkig zijn, kleuren de tumoren de huid blauw-rood. Multipele pilomatrixomen worden waargenomen bij myotonische dystrofie, syndroom van Gardner, syndroom van Rubinstein-Taybi, en syndroom van Turner (zie deze termen)."},"pt":{"name":"Pilomatrixoma"},"pl":{"name":"Pilomatricoma / Guz macierzy włosa","synonyms":["Nabłoniak wapniejący Malherbe"]},"cs":{"name":"Pilomatrixom","synonyms":["Malherbeův kalcifikující epiteliom"]},"uk":{"name":"Піломатріксома","synonyms":["Кальцифікована епітеліома Мальхербе","Піломатрікома"],"definition":"Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms)."},"zh":{"name":"毛母质瘤","synonyms":["Malherbe钙化上皮瘤"]},"tr":{"name":"Pilomatriksoma","synonyms":["Pilomatrikoma","Malherbe'nin epiteliyoma kalsifikansı"]}},"xrefs":[{"source":"OMIM","code":"132600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D23.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D23.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D23.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"378820295"},{"source":"MONDO","code":"0007564","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206711","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10192393[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-18","source":"32700760[PMID]_30119102[PMID]_35147098[PMID]","terms":[{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033559","label":"Anti-myeloperoxidase antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null}]}}