10 Rarest Diseases with Unusual Symptoms

by Mrinal sarma3 years ago

6 Harlequin ichthyosis is a rare skin disorder that is inherited in an autosomal recessive pattern. Newborns with this disorder have thick skin that cracks and splits. 

Harlequin ichthyosis
Anna and Jennie Riley. Image credit: 1girlrevolution.com

The thick skin plates of these infants affect facial features and distort them. This disease can even restrict the newborns from eating and breathing. They should be given immediate and extensive care in the neonatal intensive care unit.

The disorder may be caused by changes in the ABCA12 gene, which is responsible for giving instructions to make a protein that is crucial for the normal development of skin cells. It also transports fats to the epidermis, resulting in an effective skin barrier. When the gene changes, the skin barrier disrupts the normal development of the epidermis, resulting in the hard, thick scales. 

Some symptoms of harlequin ichthyosis include tightness of the skin around the eyes and mouth that reveals the inner red linings, chest, and abdomen that makes breathing and eating difficult, and also swollen and small hands and feet. It also includes a flat nose, missing or misshapen ears, abnormal hearing, decreased joint mobility, and frequent respiratory infections. (1, 2)

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7 Fibrodysplasia ossificans progressiva (FOP) is a disorder that calcifies soft tissue and converts it into bone. It is a highly uncommon genetic connective tissue disorder where the person experiences the development of bone in areas where it’s not normally present. 

Fibrodysplasia ossificans progressiva
Image is used for representational purposes only. Image credit: Shutterstock

In FOP, a bone can abnormally develop in ligaments, skeletal muscles, or tendons. This disorder makes the skeletal muscles and soft connective tissues experience a metamorphosis, converting them into bones.

As a result, the joints are locked making it hard or impossible to move. People with FOP may have big toes, limited movement, stiffness in affected areas, a fusion of affected joints, and other skeletal malformations. 

In early childhood, episodic flare-ups (inflammatory soft tissue swellings) begin and progress with time. FOP is mostly caused by a sporadic new mutation (change) and genetic mutation. It is caused by the mutation of an ACVR1 gene in the bone morphogenetic protein (BMP) pathway. (Source)  

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8 Chromhidrosis is a rare chronic disease in which sweat has a color. The color can be possibly green, black, yellow, blue, or brown. Although the disease is benign, it may cause psychological and emotional problems.  

Girl suffering from Chromhidrosis
Image is used for representational purposes only. Image credit: Shutterstock

Chromhidrosis can affect anyone at any age, but it usually affects people after puberty, when the apocrine glands start secreting fluids. There are three types of chromhidrosis disease:

1) Apocrine chromhidrosis, which affects parts of the body that have apocrine sweat glands;

2) Eccrine chromhidrosis, which causes colorful sweat in almost all parts of the body, and,

3) Pseudochromhidrosis, which occurs when chemicals, dyes, or pigment-producing bacteria combine with eccrine sweat to produce colorful sweat. 

Although it is a chronic disease, the discoloration of sweat can decrease with time, when the body starts producing less lipofuscin, a pigment that controls color changes. 

The condition poses no harm to the body, however, stress or embarrassment due to its symptoms may cause psychological problems like depression and anxiety. (Source)

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9 Objective tinnitus is a common condition where the person perceives or senses sound even when no external source of sound can be identified. It is often known as “ringing in the ears.”

Man suffering from Objective tinnitus
Image is used for representational purposes only. Image credit: Shutterstock

People with objective tinnitus claim that they hear chirping, whooshing, hissing, crickets, or roaring sounds, among others. The condition can affect one or both ears. Tinnitus is categorized into two types:

1) subjective tinnitus, which is pretty common and only the person with this disorder can hear the sound, and;

2) objective tinnitus, which is quite uncommon and the sound comes from an objective source that can also be heard by other persons under favorable conditions. 

The sounds may either be present every time or might come and go. Tinnitus sounds can also fluctuate in pitch, volume, or quality. There are several causes of non-rhythmic tinnitus. However, the most common one is loss of hearing or noise exposure. (1, 2)

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10 Cyclopia is a rare disease where the newborn has no nose, but a proboscis (nose-like structure) that grows above the eyes during the fetal period. It is common in miscarriage or stillbirth.  

New born suffering from Cyclopia
The image to the left is used for representational purposes only. Image credit: Shutterstock,  Wikimedia

Cyclopia is an uncommon birth disorder in which the front part of the baby’s brain doesn’t cleave into the right and left hemispheres.

The most common symptom of this disease is that the infant will have one eye or a partially divided eye. Infants with this condition survive only for a few hours after birth. The baby not only has a single eye, but the brain also does not develop properly during the early stages of pregnancy. 

Using ultrasound, cyclopia can also be diagnosed while the baby is still inside the mother’s womb. The conditions start developing inside the womb as early as between the third and fourth week of pregnancy.

However, the disease is highly uncommon, affecting only one out of 100,000 infants. The actual cause behind this syndrome is not well-understood. The disease can also be found in animals. We can not prevent the condition and there’s no cure for it yet. (Source)     

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