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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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