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Disease Profile
Hereditary mucoepithelial dysplasia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Mucoepithelial dysplasia, hereditary; Urban-Schosser-Spohn syndrome
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
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 (
The exact cause of HMD is still unknown, but it is thought to be an abnormality in desmosomes and gap junctions, which are
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Anorectal anomaly | 0012732 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Corneal dystrophy | 0001131 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
| Furrowed tongue |
Grooved tongue
|
0000221 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Hyperkeratosis | 0000962 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Sparse hair | 0008070 | |
| Tracheoesophageal fistula | 0002575 | |
| 30%-79% of people have these symptoms | ||
| Abnormal morphology of female internal genitalia | 0000008 | |
| Abnormality of the bladder | 0000014 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
| Pulmonary fibrosis | 0002206 | |
| 5%-29% of people have these symptoms | ||
| Chronic diarrhea | 0002028 | |
| Hematuria |
Blood in urine
|
0000790 |
| Melena | 0002249 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Recurrent pneumonia | 0006532 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Blindness | 0000618 | |
| Chronic monilial nail infection | 0008396 | |
| Chronic mucocutaneous candidiasis | 0002728 | |
| Coarse hair |
Coarse hair texture
|
0002208 |
|
Symptoms present at birth
|
0003577 | |
| Cor pulmonale | 0001648 | |
| Corneal neovascularization |
New blood vessel formation in cornea
|
0011496 |
| Eosinophilia |
High blood eosinophil count
|
0001880 |
| Epiphora |
Increased tears
Tearing
Watery eyes
[ more ] |
0009926 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Fibrocystic lung disease | 0006552 | |
| Keratoconjunctivitis | 0001096 | |
| Opacification of the corneal stroma | 0007759 | |
| Pneumonia | 0002090 | |
| Rhinorrhea |
Runny Nose
|
0031417 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary mucoepithelial dysplasia. Click on the link to view a sample search on this topic.
References
- Mucoepithelial Dysplasia, Hereditary. Online Mendelian Inheritance in Man (OMIM). Updated Aug. 18, 2016; https://www.omim.org/entry/158310.
- Boralevi F, Haftek M, Vabres P, Lepreux S et al. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. Br J Derm. Aug 2005; 153(2):310-8. https://www.ncbi.nlm.nih.gov/pubmed/16086741.
- Hernadez-Martin A, Colmenero I, Torrelo A. Hereditary mucoepithelial dysplasia: report of 2 sporadic cases. Ped Derm. May-Jun 2012; 29(3):311-5. https://www.ncbi.nlm.nih.gov/pubmed/22122740.
- Leithauser LA, Mutasim DF. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions. J. Cutan Pathol. Apr 2012; 39(4):431-9. https://www.ncbi.nlm.nih.gov/pubmed/22443394.