Hereditary mucoepithelial dysplasia
Synonyms: Urban-Schosser-Spohn syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary mucoepithelial dysplasia | Urban-Schosser-Spohn syndrome |
| fr | Dysplasie mucoépithéliale héréditaire | Syndrome d'Urban-Schosser-Spohn |
| de | Dysplasie, mukoepitheliale hereditäre | Urban-Schosser-Spohn-Syndrom |
| es | Displasia mucoepitelial hereditaria | Síndrome de Urban-Schosser-Spohn |
| it | Displasia mucoepiteliale ereditaria | Sindrome di Urban-Schosser-Spohn |
| nl | Erfelijke muco-epitheliale dysplasie | Syndroom van Urban-Schosser-Spohn |
| pt | Displasia muco-epitelial hereditária | Síndrome Urban-Schosser-Spohn |
| pl | Dziedziczna dysplazja śluzowo-nabłonkowa | Zespół Urbana, Schossera i Spohna |
| cs | Hereditární mukoepiteliální dysplázie | Urbanův-Schosserův-Spohnův syndrom · Urban-Schosser-Spohnův syndrom |
| uk | Спадкова дисплазія слизового епітелію | Синдром Урбана-Шоссера-Спона |
| zh | 遗传性粘膜上皮发育异常 | Urban-Schosser-Spohn综合征 |
| tr | Kalıtsal mukoepitelyal displazi | Urban-Schosser-Spohn sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158310 | E | validated | |
| ICD-10 | K13.7 | NTBT | attributed | validated |
| ICD-11 | DA02.0 | NTBT | index | validated |
| MONDO | 0008017 | E | validated | |
| MeSH | C536476 | E | validated | |
| UMLS | C1274795 | E | validated | |
| GARD | 5427 | 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:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0012732 | Anorectal anomaly | |
| HP:0000518 | Cataract | |
| HP:0001131 | Corneal dystrophy | |
| HP:0002213 | Fine hair | |
| HP:0000221 | Furrowed tongue | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0008070 | Sparse hair | |
| HP:0002575 | Tracheoesophageal fistula | |
| Frequent (79-30%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000014 | Abnormality of the bladder | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0002206 | Pulmonary fibrosis | |
| Occasional (29-5%) | ||
| HP:0000790 | Hematuria | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1839
- This record as JSON: /data/d/1839.json