Rare and Weird Diseases

Disease is a pathological condition of human or animal organ parts, system of organism that results to various causes, like infections, genetic defects or abnormal development and malfunctions of body organs. Diseases can be caused by injuries, disabilities, disorders, syndromes, infections, isolated symptoms of unknown illness, deviant behaviors and atypical kind of functions and body structures. Syndrome is a medical term for specific symptoms and signs observed by physicians and given details by the patient’s phenomena and characteristics that often occur and presence of featured illnesses. Most rare diseases could be fatal if not given the proper medical attention. Diseases, could be classified as communicable and non-communicable disease. The four types of diseases are as follows: pathogenic disease, hereditary disease, physiological disease and deficiency disease. Patients who died of the disease are commonly declared as “death by natural causes”.

1) Botulism Disease

Botulism of a 14 year old patient, with total ophthalmoplegia with Ptosis in the left image and dilated fixed right pupil.


Infant Botulism


Botulism with infected skin lesions

Botulism is a rare paralytic disease caused by botulinum toxins from metabolic wastes produced by the bacterium Chlostridium Botolinum which affects wide range of mammals, birds and aquatic animals like fish. The toxins infects humans and animals through digestive tracts by the bacterium in children or infant botulism and adult intestinal toxemia, by ingesting toxin from contaminated foods, or contamination of open wounds. Person to person contamination seldom occur. Botulism leads to paralysis and begin affecting the face, and spread towards the muscles and limbs. Honey are not advised to be fed on infants. Foodborne Botulism is often caused by food poisoning of contaminated canned foods with low-acid contents such asparagus, beans, beets and corn. Botulism outbreaks come from uncommon sources like baked-potatoes wrapped in aluminum foils, carrot juice, chili peppers and tomatoes.

Ptosis or Lazy Eyes

Ptosis or Lazy Eyes


Bilateral Ptosis or Lazy Eyes


Forest Whitaker, American Actor with Ptosis repaired

Ptosis also called “lazy eyes”, is characterized as drooping of eyelid, and could become worse if they stay awake for longer hours and tired the eye muscles, and cause to droop uncontrollably.

2) Minimata Disease

Minimata Disease patient with Tomocos hands


Minimata Disease


Minamata disease

Minimata disease also known as Chisso-Minimata disease, is a disease of the brain caused by severe mercury poisoning. Infant’s or newly born are can acquire by mother’s contaminated with mercury poisoning, and passes to her unborn baby. The symptoms includes numbness in the hands and feet, ataxia, weakness of muscles, blurred visions, hearing impairment and speech disorders. In some extreme case it leads to coma, insanity, paralysis and death. Minimata was first discovered in Japan in 1956, and the highly toxic waste from Methylmercury of the Chisso Corporation Chemical Factory, and accumulated in shellfish and fish in Minimata Bay and Shiranui Sea, where in the locals consumed the fish and other marine life of the bay area.

3) Thrombosis, Blood Clot Formation

Thrombosis, acute arterial thrombosis of right leg (notice the bluish color of the infected leg)


Deep-Vein Thrombosis symptoms


Thrombosis of a coronary artery

The formation of blood clots inside a blood vessel, blocking the flow of blood through the circulatory system is known as thrombosis. The injured blood vessel uses the thrombocytes or platelets and fibrin to form blood clots preventing loss of blood.

4) Wilson’s Disease

Wilson’s disease, a teenager rock drummer affected with the disease


Wilson’s disease, psychiatric manifestations


Ataxia Telangiectasia, small dilated blood vessels

Wilson’s disease is the excessive content of copper in a human body and builds mainly in the liver, brain, kidneys and the cornea of the eye (first layer of the front eye). The human body needs small amount of copper to stay fit and healthy, and normally the body gets rids of the excess copper in the human body. But in some cases, like the patients with Wilson’s disease, their body cannot get rid of the excess copper, thus it builds mainly in the liver and brain.

Spider Angioma

Spider Angioma or Spider Naevi

Spider angioma also called spider naevi or Nevus Araneus is a telangiestasis found beneath the skin surface, with reddish web-like tiny veins, and believed to be sign and symptoms of liver diseases, but are commonly benign.

5) Achondrogenesis Congenital Disorder

Achondrogenesis Type 1, Rare congenital disorder,female baby, died after birth


Achondrogenesis Type 2

Achondrogenesis disorder are characterized in three forms according to sign and symptoms and named as Achondrogenesis type 1A, Achondrogenesis type 1B and Achondrogenesis type 2. Sometimes this rare disease is described according to pattern of heredity and genetic causes, but some characteristic have unknown origin. Achondrogenesis have severe forms of congenital chondrodysplasia or deformed cartilages and bones, short limbs, small body and skeletal deformities. Infants with severe Achondrogenesis, are born prematurely, stillborn or die after birth. However, infants who survived Achondrogenesis disorder, could live for a short while with medical support and monitoring from their Pediatricians.

6) Kawazaki Disease

Kawazaki Disease, sign and symptoms


Kawazaki Disease

Kawazaki disease, signs found in tongue

Kawazaki disease, otherwise known as Kawazaki syndrome, Lymph Node syndrome and Mucocutaneous Lymph node syndrome, is rare disease that affects the blood vessels with inflammation affecting internal organs, mainly blood vessels, skin and mucous membranes and lymph nodes. Severe Kawazaki disease can affect the heart and can cause fatal coronary artery aneurysm, and viral infections that can lead to its pathogenesis. Most Kawazaki victims are below five year-old children. Kawazaki sign and symptoms start with persistent fever ( 39-40C and non-responsive to paracetamol or fever reliever medications), cough, colds, vomiting, sputum, headache, seizures and aortic aneurysm. Kawazaki disease is sometimes mistaken as scarlet fever, because of sign and symptoms similarities.

7) Scarlet Fever

Scarlet fever, with Strawberry tongue symptoms


Scarlet symptoms, a rough- reddish rashes on the skin, and sometimes scaly


Scarlet dequamation (skin peeling)


Scarlet Fever, also called Scarlatina in ancient medical literature, is a disease that discharges elements in the blood vessels into the body tissues and leading to fever, pharyngitis, and scarlatin form of rashes. “Exotoxin” released from discharges and secretions from the nose, ears, throat and skin, producing group A betahemolytic streptococci (GABHS). Scarlet fever includes wound infections or burns, upper respiratory tract infections and there are some reports that it also comes from food airborne outbreaks from contaminated foods.

8) Diptheria Disease

Diphtheria infected throat

Diphtheria, skin lesion on the neck

Diphtheria, skin infections

Diphtheria is a contagious disease, maybe from a direct contamination from a person with Diphtheria virus or airborne contamination , a disease infecting upper respiratory tract, caused by “Corynebacterium diphtheriae. The symptoms includes severe case of swollen lymph nodes at the back of the ears, swollen neck (sometimes they call it “bull neck”), difficulty in breathing and swallowing, sometimes can cause paralysis in the eye, neck, throat or respiratory muscles. Infected patients with Diphtheria needs immediate medical attention, due to obstruction in breathing may occur, and the patient must be in ICU or intensive care unit and undergo an “intubation” or “tracheotomy”. Abnormality in heartbeat can occur and may lead to heart failure and cardiac arrest.

9) Charcot-Marie-Tooth Disease

Charcot-Marie-tooth disorder

Charcot-Marie-tooth Disease, affected hands

Charcot-Marie-tooth disease

Charcot-Marie-Tooth disease, is a rare hereditary motor and sensory neuropathy (HMSN), transmitted as an autosomal dominant characteristic, by wasting far from a point of reference such as on origin or point of attachment or reflexes loss in the muscles and sensory touch of the legs, feet, ankle and also in the arms, wrists and hands. This condition have two types of hereditary motor and sensory neuropathy (HMSN) types l and ll. Features not visible in HMSN ll, are seen in HMSN l, associating with abnormal nerve conduction velocities and nerve hyperthropy. Sensory in the arms and legs are usually damaged, but pain nerves are intact. Cavus feet or high arched is associated with the deformity. Affected legs and limb can activate painful symptoms, numbness to spasm, and painful cramps. This disease is the most common hereditary disease and incurable and was considered as Muscular Dystrophy.

10) Bloom Syndrome

Bloom Syndrome

Bloom Syndrome

Bloom syndrome (BLM) also called Bloom-Torre-Machacek syndrome, is a rare inherited chromosome disorder, with complications that may lead to chronic lung disease, diabetes, mental retardation and cancer that may develop at any age, but sometimes diagnosed, cancer can developed at age 25. Bloom syndrome is described as having short statures, rashes on the face after sun exposure, and the rash can be of a butterfly-shaped reddish patches commonly appearing on the cheeks. Other symptoms are high-pitched voice, long-narrow face, under size jaw (micrognathism), noticeable eyes and ears, hypo and hyper pigmentation of the skin areas or pigmented birth marks (cafe-au-lait spots or giraffe spots), dilated blood vessels (tangiectasias) that appear not only on skins but also in the eyes. It can also lead to pneumonia, ear infections, inadequate functions of testes (males) or ovaries (female) leading to infertility for men and premature men or menopause for women.

11) Behcet’s Disease / Behcet’s Syndrome

Behcet’s Disease


Behcet;s Disease, sign and symptoms

Behcet’s disease on the neck

Behcet’s Syndrome, signs and symptoms

The Behcet syndrome is a rare inflammatory disease of the blood vessels of unknown causes and described as muccotaneous ulceration in the mouth, genital areas, uveitis with hypopyon. The neuro-ocular form can cause death, blindness and inflammation of a synovial membrane or called synovitis, inflammation of veins (thrombophlebitis), gastro-intestinal ulcer, inflammation of retinal vascular with different kinds of causes such as Lupus Erythematosus, Systemic, Multiple Sclerosis and Chorioretinitis and some infectious diseases.

12) Beckwith- Wiedemann Syndrome

Beckwith-Wiedemann Hemihyperthrophy

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome, genetic disease

Beckwith-Wiedemann syndrome (BWS) is a rare disease that may developed at birth or after birth. BWS is described as an “overgrowth disorder” and could lead to childhood cancer and congenital characters to the patient. It was originally called exomphalos (omphalocele)-macroglossia-gigantism (EMG) syndrome, describing the pair features of abdominal wall deformities such as the hernia-exomphalos, macroglasia (enlargement of tongue), gigantism (large body and long limbs, macrosomia (birth weight and length of 90th percentile), omphalocele (midline abdominal-wall defects), umbilical hernia and diastasis recti, ear-pits and ear creases, low-blood sugar at birth, and difficulties in speech, eating, swallowing and sleeping due to abnormal large tongue.

13) Reactive Arthritis

Reactive Arthritis causes Keratoma Blennorrhagica



Reactive Arthritis or Reiter’s Syndrome


Reactive Arthritis: Erosions, Tongue



Human-geographic tongue, signs and symptoms of Reactive arthritis


Aphthous stomatistis, Reactive Arthritis symptoms

The Reactive Arthritis, also known as Reiter’s arthritis or Reiter’s syndrome, an autoimmune condition that develops infection in some parts of the body from bacteria and can trigger the disease with signs and symptoms similar to arthritis. First symptoms can be experienced as a painful urination (dysuria) and frequent urination, inflammation of prostate glands on male (prostatitis), inflammation of fallopian tubes (salpingitis), inflammation of the uterine cervix (cervicitis), and inflammation of vagina (vulvovaginitis) for the female. Followed by painful swelling of joints like the knees and wrist. The oral cavity are also affected showing severe signs such as aphthous stomatitis (mouth ulcers), geographic tongue (tongue erosion) and migratory stomatitis (soft tissues infections).



Polyarthritis Nodosa

Polyarthritis, affected hands


Polyarthritis of the fingers

Polyarthritis also called Alpha Polyarthritis syndrome, is an arthritis type of disease involving five or more swollen joints, related with autoimmune disorder (failure of an organism recognizing its own parts) such as Rheumatoid arthritis, Psoriatic arthritis, and Lupus Erythematosus and an alphavirus known as Chikugunya virus and Ross River virus (or Ross River Fever), a tropical diseases caused by mosquito bites. Any age and gender can be affected by Polyarthritis.

Psoriatic Arthritis


Psoriatic-arthritis of the feet


Psoriatic Arthritis is also called arthritis psoriatica, arthropathic psoriasis, or psoriatic arthropathy an inflammatory arthritis may develop to 30% of patients affected by psoriasis, a chronic skin disease. The signs and symptoms of Psoriatic arthritis include swelling, severe pains on affected areas, stiffness and redness of joints (sausage-like swelling) of the fingers and toes, termed as dactylitis, pain around the feet, ankles, tendon in the sole of the feet and changes of the nails separating or pitting out from the nail bed. Also suffering from lower back area or the sacrum. Prolonged swelling and not properly medicated can lead to joints damage.

Rheumatoid Arthritis


Rheunatoid arthritis in Juvenile with swollen knee joints


Rheumatoid arthritis in adult’s hand

Rheumatoid Arthritis (RA) is a chronic inflammatory disease affecting many tissues and organs but mainly attacking the synovial joints, or called “diarthrosis”, commonly most movable joints in the body. Inflammatory of the synovium (capsule around the joints), and swelling of hyperplasia (or enlargement of an organ, benign neoplasia or benign tumor) of synovial cells, excess synovial fluids, and the development of pannus in the synovium (granulation of tissues). RA symptoms also include ankylosis (stiffness of the joints because of adhesion and rigidity of bones of the joints), inflammation of lungs membrane (pleura) and pericardium (heart membrane), sclera (white of the eye), and nodular lesions (subcutaneous tissue). The term Rheumatoid is based from Rheumatic Fever, a heart disease which involves swelling of joints.

14) Gangrene

Gangrene on the foot

Gangrene is a medical condition of mass body tissue dies or called necrosis, and a serious disease and could be fatal. Gangrene form after an unattended wounds or injuries with infected areas that leads to blood clots and reduced the blood supplies in the affected tissues and lead to necrosis. Long term smokers for diabetic patients increase the risk of gangrene infections. There are different types of gangrene and symptoms, the Dry gangrene, Wet gangrene, gas gangrene, internal gangrene, and necrotising fascitis. Treatments for gangrene includes debridement and amputation for severe cases of gangrene.

Dry Gangrene

Dry Gangrene or severe necrosis

Wet Gangrene

Wet Gangrene, auto-amputate

wet and dry gangrene of diabetic wound


bedsores or decubitus stage 4, can lead to wet gangrene if left untreated

Gas Gangrene

Gas Gangrene

Gas Gangrene on shoulder

Vascular Ischemia of toes, with Cyanosis


Noma, Facial Gangrene


Noma, Facial Gangrene


Toe amputation


Debridement of Necrotic tissues, Left leg

Maggots Therapy

Maggots Therapy or Maggot Debridement therapy (MDT)



15) Toxic Epidermal Necrolysis or Lyell’s Syndrome

Toxic Epidermal Necrolysis or Lyell’s Syndrome


Toxic Epidermal Necrolysis, severe case


Toxic Epidermal Necrolysis (TEN)Toxic Epidermal Necrosis, rare epidermal condition from allergy reactions from medications

Toxic Epidermal Necrolysis (TEN), also called Lyell’s syndrome, is a rare disease but could be life threatening dermatological condition commonly caused by allergy reactions from drugs. The rare disease is described as “desquamation” of outer skin layer epidermis, from the skin lower layer, the dermis. Nikolsky sign, is the visible in Toxic Epidermal Necrolysis, by rubbing the skin slightly, and exfoliation of the outer layer of the skin or epidermis.

16) Stevens-Johnson Syndrome (SUS)

Steven-Johnson Syndrome (SUS), severe case

Stevens-Johnson sybdrome, with conjunctivitis inflammation of the eyes and eyelids


Stevens-Johnson syndrome, showing mucosal desquamation


Stevens-Johnson disease, severe case


Stevens-Johnson Syndrome, second speechless diseases

Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are the two kinds of dermatological disorders which is life threatening if left untreated by dermatologist specialist. The cause is unknown, but ,the main causes known is allergy reactions from drugs which are sometimes purchased over the counter or without any prescriptions from the physicians. Some cases are caused by infections, but rarely are benign. The infections includes: herpes simplex virus, influenza, mumps, cat-scratch-fever, histoplasmosis, Epstein-Barr virus, mycroplasma pneumonia and other diseases. Symptoms are fever, sore throat and fatigue, which is commonly misdiagnosis and often prescribed with anti-biotic medicine.

17) Wegener’s Granulomatosis Disease

Wegener’s Granulomatosis, showing affected eyes


Wegener’s Granulomatosis, with Sclerokeratitis

Wegener’s Granulomatosis, signs and symptoms, eye-areas swollen


Wegener’s Granulomatosis, rare chronic disease

Wegener’s Granulomatosis Mucosal Ulceration

Wegener’s Granulomatosis (WG) or Granulomatosis with Polyangiitis (GPA), is an inflammation of the blood vessels (vaculitis) an incurable rare disease affecting the nose, lungs, kidneys and other internal organs. This life-threatening disease, requires long term medication due to immune system deficiency and five years survival is about 87% with mortality rate due to treatment toxicity. First noticeable sign is the rhinitis or stuffy nose, that can lead to chronic renal failure, upper airway, hearing loss and other ear infections, eye diseases such as scleritis, conjunctivitis,uveitis and episcleritis. It also affects the nose causing nosebleeding, saddle-nose deformities due to perforated septum.

18) Myiasis Diseases

Myiasis Disease, skin infected by Myiasis maggot



Myiasis disease with Tumbo Fly maggot, removed from skin wound


Myiasis Disease , affected eyes


Oral Myiasis, caused by O.ovis in Iran (note the maggots on gum)


Myiasis disease, caused by African Tumbu Fly


Screwworm Larvae or Blowfly Larvae (maggots that feeds on human and nimal flesh)

Myiasis is a pathological infectious disease caused by parasitic fly larvae feeding on the host’s living tissues, that includes blowfly strike, fly-blown and fly-strike larvae. Some of these flies lay eggs in open wounds, some invade the broken skin or enter the body through the ears and nose, or maybe swallowed the foods where flies deposited their eggs. The larvae lacerate the host’s skin and caused skin sores and penetrate through the hosts tissues. The lesions causes skin irritation leading to severe infections and if no medical attention is given it may lead to toxemia or septicemia. This disease could also lead to weakness and anorexia disease and could be very fatal.

19) Herpes Simplex


Herpes Labialis of the lower lip

Oral herpes or Herpes Labialis, is an infection of the face, commonly the lips or mouth. It is also called “cold sores”, “fever blisters” caused by Herpes simplex virus (HSV1) and a common infections.


Herpes Esophagitis


Herpes Whitlow, affecting fingers or thumb


Whitlow or Felon, infection of the tip of finger

Herpes Whitlow is a painful infected lesions of the whitlow or thumb, caused by Herpes Simplex virus.


Herpes Genitalis (female)


Herpes Genitalis (Male)

Herpes Genitalis, is an infection and the second form of herpes simplex virus, affecting commonly the male and female genitalia. Most common genital infection for males, is the penis glans, shaft of the penis or other genital parts; while in female it affects the pubis, labia, clitoris, vulva, buttocks and anus.

Herpes Simplex virus, a viral disease with two types, the (HSV1 or Type 1) and the (HSV2 or Type 2), an infection with herpes virus of several kinds of disease based on the kind of viral infections in affected skin areas.

20) Henoch–Schönlein purpura (HSP)


Henoch-Schonlein Purpura disease, signs and symptoms in legs


Henoch-Schonlein Purpura disease

Henoch-Schonlein Purpura disease, uncommon and rare disease


Henoch-Schonlein Purpura disease, affecting mouth, gum and teeth

Henoch-Schonlein Purpura disease (HSP) is uncommon and rare disease affecting most commonly children. HSP is an inflammation of the blood vessels (systemic vasculitis) described as decreased of immune complex that has lgA antibody, and this rare disease have unknown causes. The HSP, is considered a rare skin disease that cause small hemorrhage suffering from abdominal and joints pain, loss of protein and small amount of blood in the urine, but are commonly unnoticed, and affected kidneys may lead to chronic kidney disease.

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