Epidermolysis bullosa simplex with mottled pigmentation
Synonyms: EBS with mottled pigmentation · EBS-MP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex with mottled pigmentation | EBS with mottled pigmentation · EBS-MP |
| fr | Epidermolyse bulleuse simple avec pigmentation mouchetée | EBS avec pigmentation mouchetée · EBS-MP |
| de | Epidermolysis bullosa simplex mit gesprenkelter Pigmentierung | EBS-MP · EDS mit gefleckter Pigmentierung |
| es | Epidermólisis ampollosa simple con pigmentación moteada | EBS con pigmentación moteada · Epidermólisis bullosa simple con pigmentación moteada |
| it | Epidermolisi bollosa semplice con pigmentazione a chiazze | EBS con pigmentazione a chiazze · EBS-MP |
| nl | Epidermolysis bullosa simplex met gevlekte pigmentatie | EBS met gevlekte pigmentatie · EBS-MP |
| pt | Epidermólise bolhosa simples com pigmentação mosqueada | EBS-MP |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z plamistą pigmentacją | = en |
| cs | Epidermolysis bullosa simplex se skvrnitými pigmentacemi | EBS-MP |
| uk | Простий бульозний епідермоліз з плямистою пігментацією | БЕС зі строкатою пігментацією · БЕС-MP |
| zh | 单纯性大疱性表皮松解症伴斑驳色素沉着 | = en |
| tr | Benekli pigmentasyon ile seyreden epidermolizis bülloza simpleks | EBS-MP |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131960 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0007556 | E | validated | |
| MeSH | C535959 | E | validated | |
| UMLS | C0432316 | E | validated | |
| GARD | 9737 | 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 (1):
- ORPHA:595346Epidermolysis bullosa simplex without extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:6416 | ENSG00000186847 | 148066 | 17q21.2 | keratin 14 | 16601668[PMID]_20301543[PMID] |
| KRT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 20301543[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
19 annotations · validated 2021-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0003341 | Junctional split | |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin | |
| HP:0001070 | Mottled pigmentation | |
| HP:0007427 | Reticulated skin pigmentation | |
| HP:0007585 | Skin fragility with non-scarring blistering | |
| Frequent (79-30%) | ||
| HP:0045059 | Hyperkeratotic papule | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0009719 | Hypomelanotic macule | |
| HP:0002164 | Nail dysplasia | |
| HP:0008404 | Nail dystrophy | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0005590 | Spotty hypopigmentation | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001056 | Milia | |
| HP:0200097 | Oral mucosal blisters | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 22640275[PMID]_30690752[PMID]_32884918[PMID]_20301543[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79397
- This record as JSON: /data/d/79397.json