A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nai...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
The documentation for bullous dystrophy, macular type is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This scarcity results in a lack of systematic clinical studies and comprehensive phenotypic descriptions. Additionally, the genetic basis of the condition remains poorly characterized, which complicates the development of targeted research and treatment strategies.
To navigate your condition, consider seeking a specialist in genetic disorders, particularly one with experience in X-linked conditions. Genetic counseling may be beneficial to discuss the implications of X-linked inheritance for family members. Although there are currently no identified patient organizations or registries for bullous dystrophy, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging with genetic counselors can help you explore potential genetic testing options for affected family members.
Actionable guidance for navigating care for bullous dystrophy, macular type
To navigate your condition, consider seeking a specialist in genetic disorders, particularly one with experience in X-linked conditions. Genetic counseling may be beneficial to discuss the implications of X-linked inheritance for family members. Although there are currently no identified patient organizations or registries for bullous dystrophy, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging with genetic counselors can help you explore potential genetic testing options for affected family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease