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OrphaChat — a Rare Disease Podcast
Robin Hendel, MD
192 episodes
8 hours ago
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.
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Medicine
Health & Fitness
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All content for OrphaChat — a Rare Disease Podcast is the property of Robin Hendel, MD and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.
Show more...
Medicine
Health & Fitness
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Ectodermal Dysplasia
OrphaChat — a Rare Disease Podcast
20 minutes 3 seconds
11 hours ago
Ectodermal Dysplasia

Ectodermal dysplasia describes a diverse group of genetic conditions that disrupt the development of tissues such as the skin, hair, teeth, and sweat glands. Research highlights that individuals with these disorders, particularly the hypohidrotic subtype, face serious health risks including life-threatening hyperthermia and chronic respiratory infections. Beyond physical symptoms, patients often experience significant psychological distress and a diminished quality of life due to dental abnormalities and social challenges. Management typically requires a multidisciplinary approach involving reconstructive surgery, dental prosthetics, and environmental adaptations to prevent overheating. Recent medical advancements have introduced prenatal clinical trials, such as the administration of the ER004 protein in utero, which aims to restore normal gland and tooth development before birth. These sources collectively emphasise that while the mortality risk is highest during infancy, early intervention and specialized care can greatly improve long-term outcomes for affected families.

OrphaChat — a Rare Disease Podcast
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.