{"orpha":263435,"name":"Congenital smooth muscle hamartoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263435/","orphanet_url":"https://www.orpha.net/en/disease/detail/263435","names":{"fr":{"name":"Hamartome musculaire lisse congénital","definition":"Lésion hamartomateuse cutanée rare située le plus souvent dans la région lombo-sacrée ou proximale des membres (mais rarement sur des zones atypiques telles que le cuir chevelu, les paupières ou les pieds) et caractérisée par une prolifération désorganisée des fibres musculaires lisses des muscles érecteurs du poil se présentant généralement sous la forme d'une plaque localisée de couleur chair ou hyperpigmentée (jusqu'à 10 cm de diamètre) comportant des poils velus proéminents (forme classique la plus courante) ou, plus rarement, sous la forme de multiples papules de couleur chair qui peuvent fusionner pour former des plaques de forme irrégulière. Avec le temps, l'hyperpigmentation et les poils velus diminuent généralement et aucune transformation maligne ni association avec une atteinte systémique n'a été décrite."},"de":{"name":"Hamartom der glatten Muskulatur, kongenitales"},"es":{"name":"Hamartoma congénito de músculo liso","definition":"Es una lesión hamartomatosa cutánea poco frecuente localizada habitualmente en la región lumbo-sacra o en zona proximal de las extremidades (aunque excepcionalmente puede localizarse en el cuero cabelludo, párpados o en los pies). Se caracteriza por una proliferación desorganizada de las fibras musculares lisas del músculo erector del pelo y se manifiesta clínicamente como una placa localizada hiperpigmentada o del color de la piel (de hasta 10 cm de diámetro) con pelos vellosos prominentes (la forma clásica más común), o en forma de múltiples pápulas del color de la piel que pueden confluir y formar placas de morfología irregular (menos frecuente). La hiperpigmentación y los pelos vellosos suelen disminuir con el tiempo, y no se ha descrito ni la transformación maligna, ni la asociación con una afectación sistémica."},"it":{"name":"Amartoma congenito del muscolo liscio","definition":"L'amartoma congenito del muscolo liscio (CSMH) è una lesione cutanea amartomatosa rara, localizzata perlopiù nell'area lombosacrale e nella porzione prossimale degli arti (raramente in aree atipiche come il cuoio capelluto, le palpebre o i piedi). È caratterizzato da una proliferazione disorganizzata delle fibre della muscolatura liscia del muscolo piloerettore e di solito esordisce come placca localizzata dello stesso colore della cute oppure di aspetto iperpigmentato, che misura fino a 10 cm di diametro e presenta peli sporgenti (forma classica più comune); più raramente si manifesta con papule multiple dello stesso colore della cute, che talvolta confluiscono in placche dalla forma irregolare. Con il tempo l'iperpigmentazione e i peli tendono a ridursi. Non sono stati descritti casi di evoluzione maligna o di interessamento sistemico."},"nl":{"name":"Congenitaal hamartoom van glad spierweefsel","definition":"Congenitaal hamartoom van glad spierweefsel (CSMH) is een zeldzame, cutane, hamartomateuze laesie die zich meestal situeert in het lumbosacrale gebied of op de proximale ledematen (maar zelden op atypische plaatsen zoals de hoofdhuid, de oogleden of de voet), en die gekarakteriseerd wordt door wanordelijke proliferatie van gladde spiervezels van haarspiertjes (musculus arrector pili), wat zich meestal manifesteert als een gelokaliseerde, huidkleurige of gehyperpigmenteerde plaque (met een diameter tot 10 cm) met opvallend vellushaar (meest voorkomende klassieke vorm) of minder gangbaar als meervoudige huidkleurige papels die kunnen samenvloeien om onregelmatig gevormde plaques te vormen. Mettertijd verminderen de hyperpigmentatie en vellusharen meestal, en noch maligne transformatie noch geassocieerde systemische betrokkenheid werden gerapporteerd."},"pt":{"name":"Hamartoma congénito do músculo liso"},"pl":{"name":"Wrodzony hamartoma z komórek mięśni gładkich"},"cs":{"name":"Vrozený hamartom hladkého svalstva"},"uk":{"name":"Вроджена гамартома гладких мязів","definition":"Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported."},"zh":{"name":"先天性平滑肌错构瘤","definition":"先天性平滑肌错构瘤(CSMH)是一种罕见的皮肤错构性病变，最常发生在腰骶部或四肢近端(但很少发生在头皮、眼睑或足部等非典型区域)，其特征是直立肌平滑肌纤维的无序增殖，通常表现为局限性的肤色异常或色素沉着的斑块(直径可达10厘米)，并伴有明显的绒毛(最常见的典型形式)或较少见的与肤色相同的多个丘疹，该类丘疹可以结合成不规则形状的斑块。随着时间的推移，色素沉着和绒毛通常会减少，没有恶变或相关的全身受累的报道。"},"tr":{"name":"Doğumsal düz kas hamartomu"}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"690852066"},{"source":"MONDO","code":"0016986","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406819","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":38.5,"area":"Israel","status":"Validated","source":"2356798[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}