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10 Rarest Diseases with Unusual Symptoms

Rarest Diseases

People can only be cured of illnesses if they are aware of what they are suffering from. Currently, there is no cure or treatment for many rare diseases, largely because there are not enough people available to carry out scientific research. In this article, we look at the 10 rarest diseases that need more scientific research, funding, and public awareness.

1. A rare skin condition called “argyria” can occur if silver builds up in your body for a long period of time. It turns your eyes, skin, nails, internal organs, and gums into a blue-gray color. This discoloration is permanent.    

Paul Karason - argyria
Paul Karason. Image credit: Virginia Sherwood/NBC Newswire via dailymail.co.uk , oprah.com

Argyria is a rare skin condition that occurs in people who come in contact with excessive silver for a long period. People suffering from this condition will have their eyes, skin, nails, internal organs, and gums turn into blue-gray color.

The most common causes of this condition are some drugs and medications that contain a high amount of silver or an environment (especially workplace) that has excessive silver in the air. 

People working in silver mining, jewelry making, silver refining, photographic procession, and silverware or metal alloy manufacturing are more prone to argyria. Unfortunately, argyria can’t be treated, but recent trials with laser therapy are quite promising. 

Exposure to the sun can cause the silver particles in the skin to stimulate the release of excessive melanin, therefore parts of the body that are more exposed to the sun become darker. 

Excessive sun exposure can also darken and turn blue skin color to gray, but sunscreen can help prevent it from worsening. (Source)

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2. Pentalogy of Cantrell is a rare but life-threatening condition that occurs during birth (congenital). The disease affects various body parts of the infant, including the sternum, diaphragm, pericardium, abdominal wall, and heart. Infants also suffer from wide separation of some abdominal muscles.  

Pentalogy of Cantrell
Image is used for representational purposes only. Image credit: Shutterstock

Pentalogy of Cantrell birth defects includes the muscle that separates the chest cavity from the abdomen and helps in breathing, the thin membrane that lines the heart, breastbone, heart, and abdominal wall. The severity of pentalogy of Cantrell varies but can cause serious, life-threatening complications. 

Infants with pentalogy of Cantrell usually suffer from ectopia cordis and omphalocele. Another symptom can be the protruding of the intestine through a defect on either side of the umbilical cord.

Other symptoms include abnormalities with the sternum, pericardium, and heart (hole, abnormal location, or four anatomical defects of the heart).

They can also suffer from underdevelopment of lungs, breathing issues, impaired function of the heart, internal infection in the abdominal cavity, cleft lip or palate, dysplasia, cystic hygroma, limb and neural tube defects. 

Not every infant experiences all of these symptoms. The symptoms and their severity vary from one infant to the other. (Source)  

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3. Pseudocyesis is an uncommon condition where a woman believes that she’s pregnant, but in actuality, she’s not. Such women also experience many classic symptoms of pregnancy like missed periods, growing belly, breast changes, etc. 

Woman suffering from pseudocyesis
Image is used for representational purposes only. Image credit: Shutterstock

The woman suffering from pseudocyesis experiences many symptoms, if not all, of pregnancy, with the actual fetus being an exception. These symptoms include breast tenderness, frequent urination, growing belly, weight gain, breast changes, morning sickness, missed periods, and others. However, she isn’t really carrying a baby, and the condition is not related to miscarriage in any way. 

This condition can be caused by the intense desire of having a baby, multiple miscarriages, infertility, or other psychological issues such as pregnancy delusions or schizophrenia.

The patient’s brain misinterprets one or more physiological signals and triggers the release of hormones that lead to actual pregnancy symptoms. 

Some of these signals include a swollen belly, enlarged breasts, and sometimes the sensation of fetal movement. 

Since pseudocyesis is more of a psychological problem, it becomes quite challenging to treat it. However, the evidence of the absence of a fetus through imaging techniques like ultrasound can help make the woman believe that she’s not pregnant. (1, 2)

4. Persistent genital arousal disorder (PGAD) is a health condition characterized by spontaneous, unrelenting, and uncontainable genital arousal, most often in females but is not associated with sexual desire. A woman with PGAD suffers from spontaneous orgasms that aren’t caused by arousal. 

Woman suffering from PGAD
Image is used for representational purposes only. Image credit: Shutterstock

PGAD can cause stress, physical pain, and psychological problems like anxiety, depression, panic attacks, etc. since the person is not able to carry out everyday routine tasks. PGAD can affect women of all ages.

Initially, the person experiences dysesthesias, an uncomfortable and ongoing sensation in and around genital tissues, such as the vagina, anus, clitoris, etc. Other symptoms include itching, wetness, pounding, pressure, burning, and pins-and-needles. 

Some women find that going to the washroom leads to such severe arousal as to be painful. Masturbation, sexual stimulation, stress, and anxiety are believed to be the causes of PGAD. However, the exact cause of this condition is unknown. (Source)

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5. Gorham’s disease or “vanishing skull syndrome” is an uncommon skeletal condition in which the person experiences bone loss (osteolysis). It mostly occurs before the age of 40. The treatment depends on the severity of the disease. 

Gorham’s disease
Harley Dix. Image credit: dailymail.co.uk

Gorham’s disease is often linked to abnormal blood vessel growth (angiomatous proliferation). Initially, the problem occurs in just one bone but can spread to other adjacent bony and soft tissue structures.

A person with this disease may experience swelling, pain, and an increased risk of fracture. The problem can arise in any area of the skeleton but usually affects the skull, pelvis, collarbone, jaw, or spine. Complications depend on the severity and bones affected. 

The actual cause of Gorham’s disease is unknown. It’s found that many cases occur sporadically. Fortunately, the disease can be cured, but the treatment will vary depending on the signs and symptoms of each patient. It is mostly treated by surgery or radiation therapy. In a few cases, the conditions start improving on their own (spontaneous remission).

Statistics on the disease are not perfectly clear because it is extremely rare and some cases have the possibility to be misdiagnosed or undiagnosed. Therefore, the exact number of patients with Gorham’s disease is unknown. (Source)

Also read: 10 Strange Things That Were Grown in a Lab

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