Mucoepithelial Dysplasia, Hereditary (HMD)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mucoepithelial Dysplasia, Hereditary

MalaCards integrated aliases for Mucoepithelial Dysplasia, Hereditary:

Name: Mucoepithelial Dysplasia, Hereditary 57 20
Hereditary Mucoepithelial Dysplasia 20 58 6
Urban-Schosser-Spohn Syndrome 20 58
Hmd 57


Orphanet epidemiological data:

hereditary mucoepithelial dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age;


57 (Updated 05-Apr-2021)
autosomal dominant

onset at birth


mucoepithelial dysplasia, hereditary:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Orphanet: 58  
Rare eye diseases
Rare skin diseases

Summaries for Mucoepithelial Dysplasia, Hereditary

GARD : 20 Hereditary mucoepithelial dysplasia (HMD) is a very rare condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms begin in infancy and vary in severity from person to person. The most common symptoms of this condition include hair loss ( alopecia ), patchy red skin around the perineum (the area between the anus and external genitalia); and red gums. Small, skin-colored bumps ( keratosis pilaris ) and early development of cloudy lens ( cataracts ) are also common. Other symptoms may include eye disease that gets worse over time, lung disease and a rough, red tongue. Intelligence is normal. The exact cause of HMD is still unknown, but it is thought to be an abnormality in desmosomes and gap junctions, which are cell structures involved in cell-to-cell contact. HMD appears to be inherited in an autosomal dominant pattern, but has occurred in individuals with no family history of the condition. The diagnosis of HMD is based on the symptoms and other skin and eye disorders need to be excluded. HMD is very rare and has been reported in less than 30 people in the literature. Treatment typically focuses on individual symptoms of the condition. The long-term outlook for people with HMD is unknown.

MalaCards based summary : Mucoepithelial Dysplasia, Hereditary, also known as hereditary mucoepithelial dysplasia, is related to ichthyosis follicularis atrichia photophobia syndrome and newborn respiratory distress syndrome. An important gene associated with Mucoepithelial Dysplasia, Hereditary is SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1). Affiliated tissues include skin, eye and tongue, and related phenotypes are cataract and gingival overgrowth

OMIM® : 57 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 psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005). (158310) (Updated 05-Apr-2021)

Wikipedia : 73 Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia, is a rare autosomal... more...

Related Diseases for Mucoepithelial Dysplasia, Hereditary

Graphical network of the top 20 diseases related to Mucoepithelial Dysplasia, Hereditary:

Diseases related to Mucoepithelial Dysplasia, Hereditary

Symptoms & Phenotypes for Mucoepithelial Dysplasia, Hereditary

Human phenotypes related to Mucoepithelial Dysplasia, Hereditary:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
5 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
6 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
7 tracheoesophageal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0002575
8 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
9 anorectal anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012732
10 furrowed tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000221
11 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
14 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
15 abnormality of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000014
16 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008
17 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
18 chronic diarrhea 31 occasional (7.5%) HP:0002028
19 recurrent pneumonia 31 occasional (7.5%) HP:0006532
20 nail dysplasia 31 occasional (7.5%) HP:0002164
21 nail dystrophy 31 occasional (7.5%) HP:0008404
22 melena 31 occasional (7.5%) HP:0002249
23 coarse hair 31 HP:0002208
24 blindness 31 HP:0000618
25 opacification of the corneal stroma 31 HP:0007759
26 abnormality of female internal genitalia 58 Frequent (79-30%)
27 corneal neovascularization 31 HP:0011496
28 eosinophilia 31 HP:0001880
29 pneumonia 31 HP:0002090
30 abnormality of the genitourinary system 58 Frequent (79-30%)
31 esotropia 31 HP:0000565
32 keratoconjunctivitis 31 HP:0001096
33 chronic mucocutaneous candidiasis 31 HP:0002728
34 epiphora 31 HP:0009926
35 rhinorrhea 31 HP:0031417
36 cor pulmonale 31 HP:0001648
37 chronic monilial nail infection 31 HP:0008396
38 fibrocystic lung disease 31 HP:0006552

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
Head And Neck Nose:

Head And Neck Ears:
otitis, recurrent

Cardiovascular Heart:
cor pulmonale (reported in 1 family)

Abdomen Gastrointestinal:
diarrhea, recurrent (less common)
melena (less common)
esophageal webbing (less common)

Genitourinary Bladder:
hematuria (reported in 1 family)

Skin Nails Hair Skin Electron Microscopy:
epithelial cells show cytoplasmic inclusions containing lamellar bands
bundles of tonofilaments
paucity of desmosomes
paucity of gap junctions

recurrent infections of mucosal surfaces

Skin Nails Hair Hair:
coarse hair
scant hair
nonscarring alopecia

Skin Nails Hair Skin:
follicular keratosis
dry, rough skin
mucosal lesions affecting all regions (i.e., oral, nasal, vaginal, anal, bladder, conjunctival regions)
red mucosa
perineal intertrigo
Head And Neck Mouth:
red gingiva
red hard palate
beefy red tongue
deeply fissured tongue

Respiratory Lung:
cor pulmonale (reported in 1 family)
pneumonia, recurrent (reported in 1 family)
fibrotic lung disease (reported in 1 family)

Genitourinary Ureters:
hematuria (reported in 1 family)

Skin Nails Hair Skin Histology:
abnormal pap smears of all mucosal regions
decreased number of epithelia cells
thin epithelial cell layer
dyshesion of epithelial cells
lack of maturation of epithelial cells
Skin Nails Hair Nails:
nail dystrophy (less common)

Laboratory Abnormalities:
eosinophilia, mild

Clinical features from OMIM®:

158310 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mucoepithelial Dysplasia, Hereditary

Search Clinical Trials , NIH Clinical Center for Mucoepithelial Dysplasia, Hereditary

Genetic Tests for Mucoepithelial Dysplasia, Hereditary

Anatomical Context for Mucoepithelial Dysplasia, Hereditary

MalaCards organs/tissues related to Mucoepithelial Dysplasia, Hereditary:

Skin, Eye, Tongue, Lung

Publications for Mucoepithelial Dysplasia, Hereditary

Articles related to Mucoepithelial Dysplasia, Hereditary:

(show all 21)
# Title Authors PMID Year
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability. 57 6 61
32902915 2020
Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. 57 20 61
16086741 2005
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. 57 61
31790666 2020
Hereditary mucoepithelial dysplasia. 57 61
8041653 1994
New clinical aspects of hereditary mucoepithelial dysplasia. 57 61
1867287 1991
Hereditary mucoepithelial dysplasia. Case report and review of the literature. 61 57
2666466 1989
Hereditary mucoepithelial dysplasia, a disease of gap junction and desmosome formation. 61 57
7171771 1982
Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 61 57
484550 1979
Hereditary mucoepithelial dysplasia: report of two sporadic cases. 20 61
22122740 2012
Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions. 20 61
22443394 2012
Are ichthyosis follicularis and hereditary mucoepithelial dystrophy related diseases. 57
7659652 1995
New syndrome of chronic mucocutaneous candidiasis. 57
302128 1977
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum. 61
33742461 2021
Palatal Erythema with Histological Psoriasiform Pattern: An Enigmatic Oral Finding Shared by a Range of Conditions. 61
31989432 2020
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants. 61
33253727 2020
Alveolar epithelial disintegrity in pulmonary fibrosis. 61
27233996 2016
Hereditary mucoepithelial dysplasia and severe respiratory distress. 61
26236594 2015
Long-term ocular follow-up in a case with hereditary mucoepithelial dysplasia. 61
21117525 2010
Abnormal cervical smear in hereditary mucoepithelial dysplasia: a case report. 61
17917573 2007
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? 61
17103436 2006
Clinical, histologic, cytologic, and ultrastructural characteristics of the oral lesions from hereditary mucoepithelial dysplasia. A disease of gap junction and desmosome formation. 61
213754 1978

Variations for Mucoepithelial Dysplasia, Hereditary

ClinVar genetic disease variations for Mucoepithelial Dysplasia, Hereditary:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SREBF1 NM_004176.5(SREBF1):c.1580G>A (p.Arg527His) SNV Pathogenic 981495 GRCh37: 17:17720596-17720596
GRCh38: 17:17817282-17817282
2 SREBF1 NM_001005291.3(SREBF1):c.1669C>T (p.Arg557Cys) SNV Pathogenic 932243 GRCh37: 17:17720597-17720597
GRCh38: 17:17817283-17817283

Expression for Mucoepithelial Dysplasia, Hereditary

Search GEO for disease gene expression data for Mucoepithelial Dysplasia, Hereditary.

Pathways for Mucoepithelial Dysplasia, Hereditary

GO Terms for Mucoepithelial Dysplasia, Hereditary

Sources for Mucoepithelial Dysplasia, Hereditary

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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