{"orpha":64755,"name":"Becker nevus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Becker melanosis","Becker naevus syndrome","Pigmentary hairy epidermal nevus","Pigmented hairy epidermal naevus","Pigmented hairy epidermal nevus"],"definition":"A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64755/","orphanet_url":"https://www.orpha.net/en/disease/detail/64755","names":{"fr":{"name":"Syndrome du naevus de Becker","synonyms":["Mélanose de Becker","Naevus épidermique pigmenté pileux"],"definition":"Nævus épidermique bénin, syndromique, rare caractérisé par l'association d'un naevus de Becker (macules hyperpigmentées unilatérales bien circonscrites dont les contours sont irréguliers, avec ou sans hypertrichose et/ou éruptions acnéiformes, affectant principalement la partie supérieure antérieure du tronc ou la région scapulaire) avec une hypoplasie du sein ipsilatéral ou d'autres défauts hypoplasiques, squelettiques, cutanés et/ou musculaires, tels qu'une hypoplasie du muscle grand pectoral, des mamelons surnuméraires, des anomalies vertébrales, une scoliose, une asymétrie des membres, une hypoplasie odontomaxillaire et une lipoatrophie."},"de":{"name":"Becker Naevus-Syndrom","synonyms":["Becker-Melanose","Naevus, epidermaler behaarter pigmentierter"],"definition":"Es handelt sich um ein seltenes, gutartiges epidermales Nävus-Syndrom, bei dem ein Becker-Nävus (mit umschriebenen hyperpigmentierten Makulae von unregelmäßiger Form auf einer Seite, mit oder ohne Hypertrichose und/oder akneiformen Läsionen, hauptsächlich im vorderen und oberen Teil des Rumpfes oder auf den Schulterblättern) mit einer Brusthypoplasie auf der vom Nävus betroffenen Seite einhergeht. Weitere Manifestationen umfassen Hypoplasie des Skeletts, der Haut und/oder der Muskeln, einschließlich Hypoplasie des großen Brustkorbs, überzählige Brustwarzen, Defekte der Wirbelsäule, Skoliose, Asymmetrie der Gliedmaßen, odontomaxilläre Hypoplasie und Lipoatrophie."},"es":{"name":"Síndrome del nevo de Becker","synonyms":["Melanosis de Becker","Nevo epidérmico pigmentado y piloso"],"definition":"Es un síndrome de nevus epidémico benigno, poco frecuente, caracterizado por la asociación de un nevus de Becker (máculas hiperpigmentadas, de morfología irregular, delimitadas, unilaterales, con o sin hipertricosis y/o lesiones acneiformes, localizadas predominantemente en el tronco superior anterior o en la región escapular) con hipoplasia mamaria ipsilateral u otros defectos esqueléticos, cutáneos y/o musculares, típicamente hipoplásicos, tales como hipoplasia pectoral mayor, pezones supernumerarios, defectos vertebrales, escoliosis, asimetría de las extremidades, hipoplasia odontomaxilar y lipoatrofia."},"it":{"name":"Sindrome del nevo di Becker","synonyms":["Melanosi di Becker","Nevo epidermico pigmentato peloso","Sindrome del nevo di Becker"],"definition":"È una sindrome rara da nevo epidermico benigno, che associa un nevo di Becker (con macule iperpigmentate circoscritte monolaterali di forma irregolare, con o senza ipertricosi e/o lesioni acneiformi, localizzate prevalentemente nella porzione anteriore e superiore del tronco o sulle scapole) con l'ipoplasia della mammella sul lato interessato dal nevo, oppure altri difetti in ipoplasia dello scheletro, della cute e/o dei muscoli, compresa l'ipoplasia del grande pettorale, i capezzoli soprannumerari, i difetti delle vertebre, la scoliosi, l'asimmetria degli arti, l'ipoplasia odontomascellare e la lipoatrofia."},"nl":{"name":"Naevus van Becker-syndroom","synonyms":["Becker-melanose","Gepigmenteerde behaarde epidermale naevus"],"definition":"Een zeldzame, syndromale, goedaardige, epidermale naevus gekarakteriseerd door de associatie van een naevus van Becker (i.e. omrande, unilaterale, onregelmatig gevormde, gehyperpigmenteerde maculae, met of zonder hypertrichose en/of acneïforme laesies die voornamelijk voorkomen op het voorste en bovenste deel van de romp of in de scapulaire regio) met hypoplasie van de ipsilaterale borst of andere, doorgaans hypoplastische, defecten van het skelet, de huid, en/of de spieren, zoals hypoplasie van de musculus pectoralis major (grote borstspier), surnumeraire tepels, defecten van de wervels, scoliose, asymmetrie van de ledematen, dento-maxillaire hypoplasie en lipoatrofie."},"pt":{"name":"Síndrome de nevo Becker","synonyms":["Melanose Becker","Nevo epidérmico piloso pigmentado"]},"pl":{"name":"Zespół znamienia Beckera","synonyms":["Owłosione znamię naskórkowe"]},"cs":{"name":"Syndrom Beckerova névu","synonyms":["Pigmentovaný ochlupený epidermální névus"]},"uk":{"name":"Синдром невуса Беккера","synonyms":["Меланоз Беккера","Синдром невуса Беккера","Пігментний волосистий епідермальний невус","Пігментний волохатий епідермальний невус","Пігментний волохатий епідермальний невус"],"definition":"A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy."},"zh":{"name":"Becker痣综合征","synonyms":["色素性毛表皮痣"]},"tr":{"name":"Becker nevüs sendromu","synonyms":["Pigmenter tüylü epidermal nevüs"]}},"xrefs":[{"source":"OMIM","code":"604919","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1914444337"},{"source":"MONDO","code":"0011500","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":180173,"name":"Deficient breast volume or number","classifications":[205]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"ACTB","name":"actin beta","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28347698[PMID]","hgnc":"132","ensembl":"ENSG00000075624","omim":"102630","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26265883[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20542174[PMID]","terms":[{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003724","label":"Shoulder girdle muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Occasional (29-5%)","criteria":null}]}}