Rare Pulmonology News

Disease Profile

Hereditary mucoepithelial dysplasia

Prevalence
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

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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 (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.[1][2][3]

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.[1][4] HMD appears to be inherited in an autosomal dominant pattern, but has occurred in individuals with no family history of the condition.[3] 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.[2] Treatment typically focuses on individual symptoms of the condition. The long-term outlook for people with HMD is unknown. 

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
Cataract
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
Nystagmus
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
Autosomal dominant inheritance
0000006
Blindness
0000618
Chronic monilial nail infection
0008396
Chronic mucocutaneous candidiasis
0002728
Coarse hair
Coarse hair texture
0002208
Congenital onset
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

  1. Mucoepithelial Dysplasia, Hereditary. Online Mendelian Inheritance in Man (OMIM). Updated Aug. 18, 2016; https://www.omim.org/entry/158310.
  2. 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.
  3. 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.
  4. 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.