Living with Hereditary mucoepithelial dysplasia
A rare condition affecting skin, hair, gums, eyes, and lungs, starting in infancy.
Understanding Hereditary mucoepithelial dysplasia
Symptoms begin in infancy and vary in severity. The most common are hair loss, patchy red skin in the groin area, and red gums. Small skin-colored bumps and early cataracts are also common. Some people have eye disease that worsens over time, lung disease, and a rough, red tongue. GARD says intelligence is normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hair loss or thin hair
- Red gums and gum overgrowth
- Early clouding of the eye lens (cataract)
- Sensitivity to light
- Scarring of the lungs
- Frequent respiratory infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SREBF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the exact cause is unknown, but it is thought to involve problems in the structures that link cells. The SREBF1 gene is listed. It appears autosomal dominant, but it has also occurred with no family history.
Also known as: hmd; mucoepithelial dysplasia, hereditary; urban-schosser-spohn syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasHereditary mucoepithelial dysplasia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary mucoepithelial dysplasia.
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