{"orpha":137608,"name":"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SOLAMEN syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137608/","orphanet_url":"https://www.orpha.net/en/disease/detail/137608","names":{"fr":{"name":"Syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique","synonyms":["Syndrome SOLAMEN"],"definition":"Syndrome polymalformatif génétique rare qui se caractérise par une hypertrophie segmentaire asymétrique, proportionnée, progressive (avec hypertrophie du tissu mou et ballonnement) qui se développe et progresse rapidement au début de l'enfance, des malformations vasculaires artérioveineuses et lymphatiques, une lipomatose et un nævus épidermique linéaire (disposé en spires le long des lignes de Blaschko). Les signes cliniques du syndrome de Cowden, tels qu'une macrocéphalie et le développement progressif de nombreuses lésions néoplasiques et hamartomateuses hypertrophiques affectant plusieurs organes et systèmes sont par ailleurs associés. Les patients sont exposés à un risque accru de développer un cancer."},"de":{"name":"Segmentaler Auswuchs-Lipomatose-arteriovenöse Fehlbildung-epidermaler Naevus-Syndrom","synonyms":["SOLAMEN-Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine progressive, proportionale, asymmetrische segmentale Überwucherung (mit Weichteilhypertrophie und Ballonierungseffekt) gekennzeichnet ist, die sich in der frühen Kindheit entwickelt und rasch fortschreitet, sowie durch arteriovenöse und lymphatische Fehlbildungen, Lipomatose und lineare epidermale Nävus (in Blaschko-Linien angeordnet). Klinische Symptome des Cowden-Syndroms, wie Makrozephalie und die fortschreitende Entwicklung zahlreicher hypertropher hamartomatöser und neoplastischer Läsionen, die mehrere Organe und Systeme betreffen, treten ebenfalls auf. Patienten weisen ein erhöhtes Krebsrisiko auf. ."},"es":{"name":"Síndrome de sobrecrecimiento segmentario-lipomatosis-malformación arterio-venosa-nevos epidérmicos","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un sobrecrecimiento segmentario asimétrico, progresivo y proporcionado (con hipertrofia de los tejidos blandos y efecto de abombamiento) que se desarrolla y progresa rápidamente en la primera infancia, malformaciones vasculares arteriovenosas y linfáticas, lipomatosis y nevos epidérmicos lineales (dispuestos en verticilos a lo largo de la líneas de Blaschko). También se asocian síntomas clínicos del síndrome de Cowden, como macrocefalia y desarrollo progresivo de numerosas lesiones hamartomatosas y neoplásicas hipertróficas que afectan a múltiples órganos y sistemas. Los pacientes presentan un mayor riesgo de desarrollar cáncer."},"it":{"name":"Crescita segmentaria eccessiva - lipomatosi - malformazione arterovenosa - nevo epidermico","synonyms":["Sindrome SOLAMEN"],"definition":"La sindrome che associa crescita segmentaria eccessiva, lipomatosi, malformazione artero-venosa e nevo epidermico è una malattia genetica rara da malformazioni multiple; è caratterizzata da iperaccrescimento segmentario asimmetrico, proporzionato, progressivo (con ipertrofia dei tessuti molli ed effetto di ballooning), ad esordio nella prima infanzia e progressione rapida, malformazioni artero-venose e dei vasi linfatici, lipomatosi e nevo epidermico lineare (con distribuzione a spirale lungo le linee di Blaschko). Sono anche presenti i segni clinici caratteristici della sindrome di Cowden (macrocefalia, sviluppo progressivo di diverse lesioni amartomatose e neoplastiche in vari organi e sistemi). I pazienti presentano un rischio aumentato di cancro."},"nl":{"name":"Segmentale overgroei - lipomatose - arterioveneuze malformatie - epidermale naevus-syndroom","synonyms":["SOLAMEN-syndroom"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door progressieve, evenredige, asymmetrische segmentale overgroei (met hypertrofie en volumetoename (\"ballooning effect\") van weke delen) die zich ontwikkelt en snel evolueert in de vroege kindertijd, arterioveneuze en lymfatische vasculaire malformaties, lipomatose en lineaire epidermale naevus (in spiralen langs de lijnen van Blaschko). Klinische symptomen van syndroom van Cowden, zoals macrocefalie en progressieve ontwikkeling van talrijke hypertrofische hamartomateuze en neoplastische laesies die meerdere organen en systemen treffen, zijn ook geassocieerd. Patiënten vertonen een verhoogd risico op ontwikkeling van kanker."},"pt":{"name":"Síndrome de sobrecrescimento segmentar-lipomatose-malformação arteriovenosa-nevo epidérmico","synonyms":["Síndrome SOLAMEN"],"definition":"Defeito raro do desenvolvimento durante a embriogénese caracterizado por progressivo crescimento excessivo segmentar, proporcional e assimétrico (com hipertrofia de tecidos moles e efeito de balão) que se desenvolve e progride rapidamente na primeira infância, malformações vasculares arteriovenosas e linfáticas, lipomatose e nevo epidérmico linear (disposto em espirais ao longo das linhas Blaschko). Sintomas clínicos da síndrome Cowden, como macrocefalia e desenvolvimento progressivo de numerosas lesões hipertróficas hamartomatosas e neoplásicas envolvendo múltiplos órgãos e sistemas, também estão associados. Os doentes apresentam um risco aumentado de desenvolver cancro."},"pl":{"name":"Przerost segmentalny - lipomatoza - malformacja tętniczo-żylna - znamię naskórkowe","synonyms":["Zespół SOLAMEN"],"definition":"Rzadki defekt rozwojowy w trakcie embriogenezy charakteryzujący się postępującym, proporcjonalnym, asymetrycznym przerostem segmentalnym (z przerostem tkanek miękkich i efektem rozdęcia), który rozwija się i szybko postępuje we wczesnym dzieciństwie, malformacjami naczyń tętniczo-żylnych i limfatycznych, lipomatozą i liniowym znamieniem naskórkowym (ułożonym w spirale wzdłuż linii Blaschko). Mogą wystąpić objawy kliniczne zespołu Cowdena, takie jak makrocefalia i postępujący rozwój licznych przerostowych zmian hamartomatycznych i nowotworowych obejmujących wiele narządów i układów. Wstępuje zwiększone ryzyko zachorowania na chorobę nowotworową."},"cs":{"name":"Syndrom zahrnující segmentální výrůstky, lipomatózu, arteriovenózní malformace a epidermální névus","synonyms":["SOLAMEN syndrom"]},"uk":{"name":"Синдром сегментарного розростання-ліпоматозу-артеріовенозної мальформації-епідермального невуса","synonyms":["Синдром SOLAMEN"],"definition":"A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer."},"zh":{"name":"节段性过度生长-脂肪增多症-动静脉畸形-表皮痣综合征","synonyms":["SOLAMEN综合征"],"definition":"节段过度生长-脂肪过多-动静脉畸形-表皮痣综合征是一种罕见的遗传、多发畸形综合征，其特点是进展性,成比例的,不对称的节段性增生(软组织肥大和不断膨胀),在儿童早期迅速发生发展,动静脉和淋巴血管畸形,脂肪过多和线性表皮痣(沿Blaschko线旋涡状分布)。Cowden综合征的临床症状，如大头畸形和累及多个器官和系统的大量肥大错构瘤和肿瘤病变的进行性发展也与此相关。患者患癌症的风险增加。"},"tr":{"name":"Segmental büyüme-lipomatoz-arteriyovenöz malformasyon-epidermal nevüs sendromu","synonyms":["SOLAMEN sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1422381200"},{"source":"MONDO","code":"0015293","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706610","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147]},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","classifications":[147,152,156,187,202,233]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":211277,"name":"Syndromic combined vascular malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17392703[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100031","label":"Neoplasm of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}