ORPHA:626
Large/giant congenital melanocytic nevus
Synonyms: LGCMN · Large/giant CMN syndrome · Large/giant congenital pigmented nevus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Large/giant congenital melanocytic nevus | LGCMN · Large/giant CMN syndrome · Large/giant congenital pigmented nevus |
| fr | Naevus pigmentaire congénital grand/géant | Naevus grand/géant congénital |
| de | Großer/riesiger kongenitaler melanozytärer Naevus | Kongenitaler Riesenpigmentnaevus · LGCMN |
| es | Nevo melanocítico congénito grande/gigante | LGCMN · Nevo pigmentado congénito grande/gigante · Síndrome de NMC grande/gigante |
| it | Nevo melanocitico congenito grande/gigante | GMN · LCMN · LGCMN · Sindrome CMN grande/gigante · Nevo pigmentato congenito grande/gigante |
| nl | Grote/reuze congenitale melanocytaire naevus | Grote/reuze CMN-syndroom · Grote/reuze congenitale gepigmenteerde naevus · LGCMN |
| pt | Nevo melanocítico congénito grande/gigante | LGCMN · Nevo pigmentado congénito grande/gigante · Síndrome CMN grande/gigante |
| pl | Duże wrodzone znamię barwnikowe | GMN · LCMN · Olbrzymie wrodzone owłosione znamię barwnikowe · Olbrzymie wrodzone znamię barwnikowe · Wrodzone znamię barwnikowe |
| cs | Vrozený obrovský melanocytární névus | Vrozený pigmentový névus · GMN · Obrovský vrozený melanocytární névus · Obrovský pigmentový vlasový névus · LCMN |
| uk | Великий вроджений меланоцитарний невус | Вроджений пігментний невус · Гігантський вроджений меланоцитарний невус · Гігантський пігментний волохатий невус · GMN · LCMN |
| zh | 巨大先天性黑色素细胞痣 | 巨大先天性黑色素细胞痣 |
| tr | Büyük doğumsal melanositik nevüs | GMN · LCMN · Doğumsal pigmentli nevüs · Dev pigmentli tüylü nevüs · Dev doğumsal melanositik nevüs |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137550 | E | validated | |
| ICD-10 | D22.9 | NTBT | attributed | validated |
| ICD-11 | 2F20.20 | E | specific | validated |
| MONDO | 0044792 | E | validated | |
| UMLS | C1842036 | E | validated | |
| GARD | 2469 | E | validated | |
| MedDRA | 10072036 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
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Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 17301836[PMID]_18633438[PMID]_25490715[PMID] |
| NRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 23392294[PMID]_24129063[PMID] |
| ALK | Part of a fusion gene in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 30359577[PMID] |
| BRAF | Part of a fusion gene in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 30792255[PMID] |
| RAF1 | Part of a fusion gene in | Assessed | HGNC:9829 | ENSG00000132155 | 164760 | 3p25.2 | Raf-1 proto-oncogene, serine/threonine kinase | 30359577[PMID] |
| SOX5 | Part of a fusion gene in | Assessed | HGNC:11201 | ENSG00000134532 | 604975 | 12p12.1 | SRY-box transcription factor 5 | 30359577[PMID] |
| ZEB2 | Part of a fusion gene in | Assessed | HGNC:14881 | ENSG00000169554 | 605802 | 2q22.3 | zinc finger E-box binding homeobox 2 | 30359577[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.75 / 100 000 | Europe | Value and class | Validated | 21139903[PMID]_[EXPERT]_ ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2024-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0005600 | Congenital giant melanocytic nevus | |
| HP:0003764 | Nevus | |
| Frequent (79-30%) | ||
| HP:0000970 | Anhidrosis | |
| HP:0000958 | Dry skin | |
| HP:0001058 | Poor wound healing | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0000998 | Hypertrichosis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000989 | Pruritus | |
| HP:0001250 | Seizure | |
| HP:0002176 | Spinal cord compression | |
| HP:0001482 | Subcutaneous nodule | |
| Very rare (<4-1%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0010314 | Premature thelarche | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 34845496[PMID]_PNDS 2021[OTHER]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/626
- This record as JSON: /data/d/626.json