The Most Unusual Diseases Ever
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The Most Unusual Diseases Ever
There are diseases we all know about and fear. Heart disease. Multiple sclerosis. Cancer. But what about the diseases hiding in the shadows - the ones you rarely hear about, which are so rare that often times they're untreatable, and maybe even fatal. Learn more about some diseases and afflictions with atypical onsets, symptoms and prognoses.
Alien Hand Syndrome: A hand with a mind of its own
Rare neurological disorder where one's hand functions involuntarily. Full sensation is present in the hand, but is perceived as detached from the body.
Mild Symptoms:
- Involuntary reaching or grasping
- Touching the face
- Undoing buttons or tearing at clothing
Severe Symptoms:
- Involuntarily stuffing food in mouth
- Self-inflicted punching and choking
Alien Hand Syndrome has inspired writers and filmmakers for decades. Famous portrayals of Alien Hand Syndrome include: The Addams Family, The Hand directed by Oliver Stone, Dr. Strangelove.
Often a side effect of brain injury:
-Stroke
-Tumor
-Infection
-Head trauma
-Brain surgery
Only 40-50 cases since 1909
There is NO treatment or cure
Hutchinson-Gilford Progeria Syndrome
A disease where children have symptoms of premature aging
HGPS is a genetic disease (gene mutation), it doesn't run in families.
HGPS is FATAL
1 in 4-8 million newborns are diagnosed with HGPS
There are 89 children (in 32 countries) living with Progeria (HGPS)
Treatment: Trials are underway to find effective pharmaceutical treatments
Average age of death is 13 years old
Symptoms:
-No physical growth
-Body fat/hair loss
-Aged skin
-Joint stiffness
-Hip fragility/dislocation
-Stroke
-Atherosclerosis/heart disease: the cause of death
Fatal Familial Insomnia (FFI)
Late-in-life sudden onset of insomnia, ALWAYS fatal
FFI is an inherited genetic mutation
One parent with the gene = 50% chance of offspring affliction
Documented in 100 individuals and 40 families worldwide
Symptoms:
-Inability to sleep, growing worse over time
-Panic
-Paranoia
-Weight Loss
-Hallucinations
-Delirium
-Confusion/dementia
Treatment:
No known treatment. Quality of life improvements may be possible.
Sleeping pills and barbiturates actually make FFI WORSE and accelerates death in 3 out of 4 patients.
Patient Zero
Rich Italian doctor, died in 1765, passed the gene onto his children
Average age of onset: 50 years old
Average survival period from onset: 18 months
Epidermodysplasia Verruciformis (EV)
Severe skin growths that look like tree roots and bark.
Inherited; interplay between HPC, an cutaneous squamous cell carcinomas
Over 200 documented cases
61.5% occur during childhood
Symptoms:
-Chronic HPV infection: both common types and EV-associated HPVs
-More than 30 types of EV-HPV
-Wartlike skin growths and red-brown plaques may grow all over the body.
Treatment:
Treatment options include acitretin, interferons, retinues and surgery
Famous example - Treeman:
-Dede Koswara, Indonesian man known as "Treeman," is most famous case - appeared on TLC and Discovery Channel
-At 15 years old, got a cut on his knee. A wart developed on his leg & spread quickly
-95% of his warts, weighing 13 pounds, were removed during surgery in 2008
-The growths continue but are controlled, and his life is no longer in danger
Harlequin Ichthyosis (Harlequin Fetus)
Babies born with thick scales and flattened ears
Mutation of the ABCA12 gene: the gene responsible for normal development of skin cells
Each parent carries one copy of the gene; typically do not have symptoms
Prevalence is less than 1 in 1,000,000
More than 50% die soon after birth
Life For Survivors:
-Grow as much skin in 1 night as a normal body would in 14 days
-Bathe twice daily for two hours to rub off excessive skin
-Apply lubricant numerous times daily
-Skin appears red, dry and cracked
-Lessened hair growth
-High risk for infection
Symptoms:
-Newborn covered with thick plates of skin that crack and split
-Eyelids and lips turn inside out
-Ears appear misshapen or missing
-Severe dehydration and risk of infection
-Restricted movement of chest and limbs
Treatment:
Infants are kept in humidified incubators and bathed twice daily. Frequent wet sodium chloride compresses and lubricants, intravenous fluids, sterile environment, retinoid therapy
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