Syringocystadenoma papilliferum
Synonyms: Fistulous vegetative verrucous hydradenoma · Naevus syringocystadenomatosus papilliferus · Papillary syringocystadenoma · SCAP · Syringadenoma papilliferum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syringocystadenoma papilliferum | Fistulous vegetative verrucous hydradenoma · Naevus syringocystadenomatosus papilliferus · Papillary syringocystadenoma · SCAP · Syringadenoma papilliferum |
| fr | Syringocystadénome papillifère | Hydradénome verruqueux fistulo-végétant · SCAP · Syringocystadenome papillaire |
| de | Syringocystadenoma papilliferum | Fistulöses vegetatives verruköses Hidradenom · Hidradenoma verrucosum fistulovegetans · Naevus syringocystadenomatosus papilliferus · SCAP · Schweißdrüsenadenom, papilläres · Syringadenom, papilläres |
| es | Siringocistoadenoma papilífero | Hidradenoma verrugoso fístulo-vegetativo · Nevo siringocistoadenomatoso papilífero · SCAP · Siringoadenoma papilífero · Siringocistoadenoma papilar |
| it | Siringocistoadenoma papillifero | Idradenoma verrucoso fistoloso vegetante · Nevo siringocistadenomatoso papillifero · SCAP · Siringadenoma papillifero · Siringocistoadenoma papillare |
| nl | Syringocystadenoma papilliferum | Fistuleus vegetatief verruceus hidradenoom · Naevus syringocystadenomatosus papilliferus · Papillair syringocystadenoom · SCAP · Syringadenoma papilliferum |
| pt | Siringocistoadenoma papilífero | Hidradenoma verrucoso vegetativo fístuloso · Hidradenoma verrugoso vegetativo fistuloso · Nevo siringocistoadenomatoso papilífero · Siringoadenoma papilífero |
| pl | Torbielakogruczolak syringialny brodawkujący | SCAP · Torbielakogruczolak brodawkujący |
| cs | Syringocystadenoma papilliferum | Fistulózní vegetativní verukózní hydradenom · Naevus syringocystadenomatosus papilliferus · SCAP · Syringadenoma papilliferum |
| uk | Сирингоцистаденома папілярна | Норицева вегетативна веррукозна гідраденома · Невус сирингоцистаденоматозний папілярний · Папілярна сирингоцистаденома · SCAP · Сирингоаденома папілярна |
| zh | 乳头状汗管囊腺瘤 | 痣合并乳头状汗管囊腺瘤 |
| tr | Syringocystadenoma papilliferum | SCAP · Sirengadenom papilliferum · Fistülöz vejetatif verrüköz hidradenom · Naevus siringosistadenomatozus papilliferus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D23.9 | NTBT | index | validated |
| ICD-11 | LC0Y | NTBT | index | validated |
| MONDO | 0019392 | E | validated | |
| UMLS | C0406803 | E | validated | |
| GARD | 5100 | E | validated | |
| MedDRA | 10042926 | 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 (2):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Genes
1 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 | 25532942[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 730 cases | Worldwide | Case(s) | Validated | 16418676[PMID]_EXPERT | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| Occasional (29-5%) | ||
| HP:0010815 | Nevus sebaceous | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/840
- This record as JSON: /data/d/840.json