Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Synonyms: SOLAMEN syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | SOLAMEN syndrome |
| fr | Syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique | Syndrome SOLAMEN |
| de | Segmentaler Auswuchs-Lipomatose-arteriovenöse Fehlbildung-epidermaler Naevus-Syndrom | SOLAMEN-Syndrom |
| es | Síndrome de sobrecrecimiento segmentario-lipomatosis-malformación arterio-venosa-nevos epidérmicos | |
| it | Crescita segmentaria eccessiva - lipomatosi - malformazione arterovenosa - nevo epidermico | Sindrome SOLAMEN |
| nl | Segmentale overgroei - lipomatose - arterioveneuze malformatie - epidermale naevus-syndroom | SOLAMEN-syndroom |
| pt | Síndrome de sobrecrescimento segmentar-lipomatose-malformação arteriovenosa-nevo epidérmico | Síndrome SOLAMEN |
| pl | Przerost segmentalny - lipomatoza - malformacja tętniczo-żylna - znamię naskórkowe | Zespół SOLAMEN |
| cs | Syndrom zahrnující segmentální výrůstky, lipomatózu, arteriovenózní malformace a epidermální névus | SOLAMEN syndrom |
| uk | Синдром сегментарного розростання-ліпоматозу-артеріовенозної мальформації-епідермального невуса | Синдром SOLAMEN |
| zh | 节段性过度生长-脂肪增多症-动静脉畸形-表皮痣综合征 | SOLAMEN综合征 |
| tr | Segmental büyüme-lipomatoz-arteriyovenöz malformasyon-epidermal nevüs sendromu | SOLAMEN sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0015293 | E | validated | |
| UMLS | C4706610 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis - ORPHA:306498PTEN hamartoma tumor syndrome
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:211277Syndromic combined vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTEN | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 17392703[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0100764 | Lymphangioma | |
| HP:0200034 | Papule | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0005293 | Venous insufficiency | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0010566 | Hamartoma | |
| HP:0004349 | Reduced bone mineral density | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000256 | Macrocephaly | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0002757 | Recurrent fractures | |
| HP:0001883 | Talipes | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137608
- This record as JSON: /data/d/137608.json