Hereditary mucoepithelial dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: HMD
Urban-Schosser-Spohn syndrome
Number of Symptoms 76
OrphanetNr: 1839
OMIM Id: 158310
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed: 403442005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic immune deficiency with skin involvement
 -Rare genetic disease
Immune deficiency with skin involvement
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002907) Microscopic hematuria 27 / 7739
2
 (HPO:0000790) Hematuria Occasional [Orphanet] rare [HPO:skoehler] 106 / 7739
3
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
4
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
5
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
6
 (HPO:0000246) Sinusitis 73 / 7739
7
 (HPO:0000221) Furrowed tongue Very frequent [Orphanet] 24 / 7739
8
 (HPO:0000618) Blindness 124 / 7739
9
 (HPO:0007957) Corneal opacity 84 / 7739
10
 (HPO:0000529) Progressive visual loss 54 / 7739
11
 (HPO:0011496) Corneal neovascularization 7 / 7739
12
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
13
 (HPO:0001096) Keratoconjunctivitis 3 / 7739
14
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
15
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
16
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
17
 (HPO:0000565) Esotropia 58 / 7739
18
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
19
 (HPO:0000491) Keratitis 21 / 7739
20
 (HPO:0002028) Chronic diarrhea rare [HPO:skoehler] 51 / 7739
21
 (HPO:0002014) Diarrhea 225 / 7739
22
 (HPO:0002575) Tracheoesophageal fistula Very frequent [Orphanet] 54 / 7739
23
 (HPO:0004378) Abnormality of the anus Very frequent [Orphanet] 34 / 7739
24
 (HPO:0002249) Melena rare [HPO:skoehler] 11 / 7739
25
 (HPO:0008396) Chronic monilial nail infection 1 / 7739
26
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
27
 (HPO:0001056) Milia 24 / 7739
28
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
29
 (HPO:0002208) Coarse hair 58 / 7739
30
 (HPO:0001596) Alopecia 162 / 7739
31
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
32
 (HPO:0200034) Papule 12 / 7739
33
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
34
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
35
 (HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
36
 (HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
37
 (HPO:0001648) Cor pulmonale 16 / 7739
38
 (HPO:0001880) Eosinophilia 35 / 7739
39
 (HPO:0006532) Recurrent pneumonia rare [HPO:skoehler] 48 / 7739
40
 (HPO:0002090) Pneumonia 59 / 7739
41
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
42
 (HPO:0006552) Fibrocystic lung disease 1 / 7739
43
 (HPO:0002206) Pulmonary fibrosis Frequent [Orphanet] 51 / 7739
44
 (OMIM) Dry, rough skin 1 / 7739
45
 (OMIM) Paucity of desmosomes 1 / 7739
46
 (HPO:0003577) Congenital onset 133 / 7739
47
 (OMIM) Recurrent infections of mucosal surfaces 1 / 7739
48
 (OMIM) Nonscarring alopecia 1 / 7739
49
 (OMIM) Beefy red tongue 1 / 7739
50
 (OMIM) Abnormal Pap smears of all mucosal regions 1 / 7739
51
 (OMIM) Otitis, recurrent 7 / 7739
52
 (OMIM) Paucity of gap junctions 1 / 7739
53
 (OMIM) Dyskeratosis 2 / 7739
54
 (OMIM) Red mucosa 1 / 7739
55
 (OMIM) Thin epithelial cell layer 1 / 7739
56
 (OMIM) Vacuolization 2 / 7739
57
 (OMIM) Perineal intertrigo 1 / 7739
58
 (OMIM) Eosinophilia, mild 1 / 7739
59
 (OMIM) Red hard palate 1 / 7739
60
 (OMIM) Red gingiva 1 / 7739
61
 (OMIM) Bundles of tonofilaments 1 / 7739
62
 (OMIM) Scant hair 1 / 7739
63
 (OMIM) Dyshesion of epithelial cells 1 / 7739
64
 (OMIM) Lack of maturation of epithelial cells 1 / 7739
65
 (OMIM) Deeply fissured tongue 1 / 7739
66
 (OMIM) Tearing 2 / 7739
67
 (OMIM) Psoriasiform plaques 1 / 7739
68
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
69
 (OMIM) Mucosal lesions affecting all regions (i.e., oral, nasal, vaginal, anal, bladder, conjunctival regions) 1 / 7739
70
 (MedDRA:10023369) Keratosis follicular 5 / 7739
71
 (OMIM) Decreased number of epithelia cells 1 / 7739
72
 (OMIM) Pannus formation 1 / 7739
73
 (OMIM) Fibrotic lung disease (reported in 1 family) 1 / 7739
74
 (OMIM) Epithelial cells show cytoplasmic inclusions containing lamellar bands 1 / 7739
75
 (OMIM) Esophageal webbing (less common) 1 / 7739
76
 (OMIM) Lack of normal keratinization 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal ...
Diagnosis OMIM - Differential Diagnosis

Urban et al. (1991) suggested that this disorder should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs. ...
Clinical Description OMIM Witkop et al. (1979) described a 4-generation kindred with a disorder termed hereditary mucoepithelial dysplasia, characterized by flat red lesions affecting the periorificial mucosa and by follicular keratosis of the skin. Affected individuals had severe photophobia and nystagmus ...