Large congenital melanocytic nevus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GPHN GMN GCPN LCMN GHPN Giant pigmented hairy nevus Giant congenital melanocytic nevus Congenital pigmented nevus |
| Number of Symptoms | 31 |
| OrphanetNr: | 626 |
| OMIM Id: |
137550
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| ICD-10: |
D22 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skin tumor
-Rare genetic disease Rare nevus -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0010759) | Prominence of the premaxilla | 5 / 7739 | ||||
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(HPO:0000418) | Narrow nasal ridge | 15 / 7739 | ||||
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(HPO:0002002) | Deep philtrum | 42 / 7739 | ||||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0001965) | Abnormality of the scalp | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000337) | Broad forehead | 116 / 7739 | ||||
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(HPO:0000194) | Open mouth | 70 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000455) | Broad nasal tip | 67 / 7739 | ||||
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(HPO:0000629) | Periorbital fullness | 13 / 7739 | ||||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0000989) | Pruritus | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0005600) | Congenital giant melanocytic nevus | 1 / 7739 | ||||
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(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0012056) | Cutaneous melanoma | 10 / 7739 | ||||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0002664) | Neoplasm | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0002861) | Melanoma | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0100242) | Sarcoma | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0030448) | Soft tissue sarcoma | Occasional [Orphanet] | 18 / 7739 | |||
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(OMIM) | Giant pigmented hairy nevus, often in lumbosacral distribution | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Giant pigmented hairy nevus (GHPN) is a congenital melanocytic lesion, which despite its name may not be hairy. These nevi are significant because of the risk of malignant transformation (summary by Ho et al., 1999). |
| Clinical Description OMIM |
Hecht et al. (1981) reported 2 first-cousin infants, a boy and a girl, respectively, who were born with giant pigmented hairy nevus of the scalp. The diameter of the nevi in each child approximated half of the scalp ... |
| Population genetics OMIM |
The frequency of occurrence of congenital giant pigmented hairy nevus larger than 20 cm in diameter in pediatric patients has been estimated to be 1 in 4,150. Data on possible malignant transformation of these lesions into a melanoma ... |