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Detailed information on:
Epidermolysis Bullosa, Bullous Pemphigoid, Pulmonary Hypertension, Prader-Willi Syndrome
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Rare Diseases
These are the rare diseases that we will have information on.
Epidermolysis Bullosa 表皮分解性水泡症
- Epidermolysis Bullosa (EB) is a rare genetic disorder causing fragile skin that blisters and tears with minimal friction, due to gene mutations affecting skin integrity.
- Symptoms include blistering, open wounds, pain, and scarring; severe cases may impact internal linings like the mouth and esophagus, leading to complications such as infections, malnutrition, and increased skin cancer risk.
- Affected Population: EB affects about 20 per million live births globally, impacting all races and genders without specific geographic concentration.
- Treatment focuses on symptom management, wound care, and pain relief, with advanced therapies like gene therapy available but often costly.
Bullous Pemphigoid 大疱性類天疱瘡
- Bullous Pemphigoid is a rare autoimmune skin disorder causing large, fluid-filled blisters, mainly on flexing areas like the abdomen, thighs, or armpits, due to the immune system attacking tissue between skin layers.
- Symptoms Include red, itchy rashes that develop into painful blisters filled with clear or yellow fluid, which may rupture and cause sores.
- Affected Population: Primarily affects older adults over 60, occurring equally among men and women, with a higher prevalence in Western populations.
- Treatment focuses on reducing inflammation, relieving itching, and preventing blisters, using corticosteroids, immunosuppressants, and anti-inflammatory medications; early treatment can aid in achieving long-term remission and preventing complications.
Pulmonary Hypertension 肺高血壓
- Pulmonary Hypertension (PH) A condition where high blood pressure in the pulmonary arteries forces the heart to work harder to push blood to the lungs, potentially leading to heart failure over time.
- Symptoms Includes shortness of breath, fatigue, chest pain, dizziness, leg and ankle swelling, and bluish lips or skin. These symptoms worsen gradually, greatly affecting quality of life.
- Affected Population: PH can impact individuals of any age, including children, but is most frequently diagnosed in adults. It has a global presence with no specific geographic concentration; prevalence depends on underlying causes and healthcare access.
- Treatment Focuses on managing symptoms and enhancing quality of life through medications (vasodilators, blood thinners, diuretics), oxygen therapy, lifestyle adjustments, and, in severe cases, lung transplantation. Early diagnosis and management are essential for improving outcomes.
Prader-Willi Syndrome 普瑞德威利症候群
- Prader-Willi Syndrome (PWS) A genetic disorder caused by the loss of function of specific genes on chromosome 15, typically arising from a spontaneous genetic error rather than inheritance.
- Symptoms Initially presents with poor muscle tone, feeding difficulties, and growth delays in infancy, followed by hyperphagia (insatiable appetite), leading to obesity in childhood. Additional symptoms include intellectual disabilities, behavioral issues, short stature, low muscle tone, and distinctive facial features, with risks of sleep disturbances, hormonal deficiencies, and obesity-related complications.
- Affected Population: PWS affects males and females equally across all ethnic groups, with a prevalence of 1 in 10,000 to 30,000 individuals worldwide.
- Treatment Aims to manage symptoms and improve quality of life through hormone therapy, strict dietary control, behavioral and physical therapy, and addressing obesity-related complications for better health outcomes.
