Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding autosomal dominant epidermolytic ichthyosis reflects its rarity and the complexities involved in its clinical characterization. Because this condition affects a small population, systematic clinical studies have been scarce. Additionally, the absence of identified genetic markers further complicates research efforts and understanding of the disease.
Patients with autosomal dominant epidermolytic ichthyosis often exhibit hyperkeratosis (80-99%), erythroderma (80-99%), and significant weight loss (80-99%) due to poor appetite (80-99%). Congenital bullous ichthyosiform erythroderma is also frequently observed (80-99%). Additional clinical features may include abnormal blistering of the skin, which affects the quality of life, and cutaneous photosensitivity (30-79%). Less common manifestations include palmoplantar keratoderma (5-29%) and conjunctival hamartoma (5-29%).
To navigate your care effectively, consider seeking a dermatologist who specializes in genetic skin disorders. They can provide insights into symptom management and potential treatment options. While there are currently no identified patient organizations for autosomal dominant epidermolytic ichthyosis, you may find resources through general rare disease organizations such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition.
Actionable guidance for navigating care for autosomal dominant epidermolytic ichthyosis
To navigate your care effectively, consider seeking a dermatologist who specializes in genetic skin disorders. They can provide insights into symptom management and potential treatment options. While there are currently no identified patient organizations for autosomal dominant epidermolytic ichthyosis, you may find resources through general rare disease organizations such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Consider asking your healthcare providers these condition-specific questions
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.