Doctor Reacts To Rarest Diseases Ep. 2
Doctor Mike・2 minutes read
Schwartz Jampel syndrome, ichthyosis, xeroderma pigmentosum, congenital hypertrichosis, congenital leptin deficiency, and severe genu recurvatum are rare conditions with unique treatment approaches involving physical therapy, skin-eating fish, laser treatment, hormone injections, and corrective surgery to improve quality of life. Surgical interventions like bone cutting, bone adjustment, and muscle rehabilitation are crucial for correcting deformities and improving mobility, leading to significant improvements in patients' conditions and overall well-being.
Insights
- Early intervention through physical therapy and behavioral modifications is crucial for managing Schwartz Jampel syndrome, a rare condition causing severe muscle tightness.
- Surgical correction, involving precise bone removal and realignment, followed by extensive muscle rehabilitation, can successfully treat severe genu recurvatum like in Tuanzhi's case, resulting in significant height gain and improved leg alignment.
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Recent questions
What is Schwartz Jampel syndrome?
A rare condition causing extreme muscle tightness.
What is ichthyosis with confetti?
A condition causing excessive keratin in the skin.
What is xeroderma pigmentosum?
A condition causing hypersensitivity to UV light.
What is congenital hypertrichosis?
A condition requiring laser treatment for hair removal.
What is congenital leptin deficiency?
A condition necessitating daily hormone injections.
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Summary
00:00
Rare conditions and unique treatments for children.
- Schwartz Jampel syndrome is a rare muscle condition causing extreme muscle tightness.
- Early intervention in children's development can involve physical therapy and behavioral modifications.
- Raphael from Austria has ichthyosis with confetti, a condition causing excessive keratin in the skin.
- Raphael's unique treatment involves skin-eating fish in a specially made tank.
- Thomas and Vincent suffer from xeroderma pigmentosum, making them hypersensitive to UV light.
- Congenital hypertrichosis, or werewolf syndrome, affects Kemilly de Souza, requiring laser treatment for hair removal.
- Santiago's obesity is due to congenital leptin deficiency, necessitating daily hormone injections.
- Tuanzhi has severe genu recurvatum, a condition causing her knees to bend backward.
- Tuanzhi undergoes surgery to correct her knee deformity, involving operations on her knees, ankle joints, and feet.
- Deciding on surgery involves weighing the risks and benefits, ensuring it's the best course of action.
12:34
"Life-changing surgeries increase height by 12 inches"
- The operation for Tuanzhi involves cutting a precisely measured triangular piece of bone from her lower thigh, adjusting the thigh bone, and undergoing muscle rehabilitation to support the newly structured bones.
- Tuanzhi undergoes two four-hour operations in two weeks to correct her right foot first, then her left, followed by several weeks of muscle rehabilitation. Five months after her final operation, she gains 12 inches in height due to her now straight legs.
