Living with Bullous dystrophy, macular type
A rare X-linked syndrome in males with learning differences, small head, short stature, and skin, hair, and nail changes.
Understanding Bullous dystrophy, macular type
Ectodermal differences include hair loss, blisters that form without injury, lighter and darker skin patches, a bluish color of the hands or feet (acrocyanosis), and poorly formed nails. Fingers may be short and tapering. Eye differences like clouding of the cornea or lens can occur. It is seen in newborns. No new reports have appeared since 1995.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering of the skin
- Hair loss
- Patchy darker or lighter skin
- Poorly formed nails
- Small head and short stature
- Clouding of the cornea
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 brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- 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 DEBRA of America 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
Changes in genes cause this condition. It is inherited in an X-linked way.
Also known as: hereditary bullous dystrophy, macular type
Patient organizations
- DEBRA of AmericaBullous dystrophy, macular type · United States
- Epidermolysis Bullosa Medical Research FoundationBullous dystrophy, macular type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bullous dystrophy, macular type.
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