A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include h...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on AR-HED is limited primarily due to its rarity, which affects fewer than 1 in 100,000 individuals worldwide. Consequently, systematic clinical studies and comprehensive genetic characterizations have been sparse. The lack of identified genes and established inheritance patterns further complicates understanding of the condition, leaving many patients and families seeking clarity.
The clinical presentation of AR-HED includes several key features: 80-99% of patients experience premature loss of primary teeth, dry skin, and abnormal fingernail morphology. Additionally, 80-99% may have fine hair and hypoplasia of teeth. Other symptoms include abnormal hair morphology and alopecia (30-79%), as well as hypohidrosis (30-79%), which can significantly impact quality of life.
To navigate the challenges of AR-HED, consider consulting a dermatologist with expertise in ectodermal dysplasias. Genetic counseling may also be beneficial, even though no specific genetic cause has been identified, to discuss family planning and potential risks. While there are currently no patient organizations or registries specifically for AR-HED, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide general support and information. Staying connected with healthcare providers who understand rare conditions is crucial for managing symptoms effectively.
Actionable guidance for navigating care for autosomal recessive hypohidrotic ectodermal dysplasia
To navigate the challenges of AR-HED, consider consulting a dermatologist with expertise in ectodermal dysplasias. Genetic counseling may also be beneficial, even though no specific genetic cause has been identified, to discuss family planning and potential risks. While there are currently no patient organizations or registries specifically for AR-HED, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide general support and information. Staying connected with healthcare providers who understand rare conditions is crucial for managing symptoms effectively.
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.