Becker nevus syndrome
Synonyms: Becker melanosis · Becker naevus syndrome · Pigmentary hairy epidermal nevus · Pigmented hairy epidermal naevus · Pigmented hairy epidermal nevus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Becker nevus syndrome | Becker melanosis · Becker naevus syndrome · Pigmentary hairy epidermal nevus · Pigmented hairy epidermal naevus · Pigmented hairy epidermal nevus |
| fr | Syndrome du naevus de Becker | Mélanose de Becker · Naevus épidermique pigmenté pileux |
| de | Becker Naevus-Syndrom | Becker-Melanose · Naevus, epidermaler behaarter pigmentierter |
| es | Síndrome del nevo de Becker | Melanosis de Becker · Nevo epidérmico pigmentado y piloso |
| it | Sindrome del nevo di Becker | Melanosi di Becker · Nevo epidermico pigmentato peloso · Sindrome del nevo di Becker |
| nl | Naevus van Becker-syndroom | Becker-melanose · Gepigmenteerde behaarde epidermale naevus |
| pt | Síndrome de nevo Becker | Melanose Becker · Nevo epidérmico piloso pigmentado |
| pl | Zespół znamienia Beckera | Owłosione znamię naskórkowe |
| cs | Syndrom Beckerova névu | Pigmentovaný ochlupený epidermální névus |
| uk | Синдром невуса Беккера | Меланоз Беккера · Синдром невуса Беккера · Пігментний волосистий епідермальний невус · Пігментний волохатий епідермальний невус · Пігментний волохатий епідермальний невус |
| zh | Becker痣综合征 | 色素性毛表皮痣 |
| tr | Becker nevüs sendromu | Pigmenter tüylü epidermal nevüs |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604919 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LC02 | NTBT | index | validated |
| MONDO | 0011500 | E | validated | |
| MeSH | C565735 | E | validated | |
| UMLS | C1858042 | E | validated | |
| GARD | 3856 | 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 (4):
- ORPHA:180173Deficient breast volume or number
rare gynecological and obstetric diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTB | Disease-causing somatic mutation(s) in | Assessed | HGNC:132 | ENSG00000075624 | 102630 | 7p22.1 | actin beta | 28347698[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_26265883[PMID] |
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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010566 | Hamartoma | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0100578 | Lipoatrophy | |
| HP:0002983 | Micromelia | |
| HP:0003724 | Shoulder girdle muscle atrophy | |
| HP:0002558 | Supernumerary nipple | |
| Frequent (79-30%) | ||
| HP:0010311 | Aplasia/Hypoplasia of the breasts | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| Occasional (29-5%) | ||
| HP:0000045 | Abnormality of the scrotum | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0002808 | Kyphosis | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0003298 | Spina bifida occulta | |
| HP:0005815 | Supernumerary ribs | |
| HP:0100560 | Upper limb asymmetry | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20542174[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64755
- This record as JSON: /data/d/64755.json