List of Rare Skin Diseases
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List of Rare Skin Diseases

Since the skin is very delicate, it is quite prone to various injuries and allergies, apart from regular disorders like acne and minor allergies. Since many skin disorders are not properly characterized, there is no proper treatment for some of them and there are still others that are difficult to diagnose and treat.


The largest organ of our body, our skin, is usually the first to reflect any weird changes or infections in our bodies. The first signs that something is wrong with us are usually reflected in our skin, which leads to the skin being called the mirror of the body.

Since the skin is very delicate, it is quite prone to various injuries and allergies, apart from regular disorders like acne and minor allergies. Since many skin disorders are not properly characterized, there is no proper treatment for some of them and there are still others that are difficult to diagnose and treat. However, it is assumed that the primary cause of skin disorders is an allergy and medical experts usually explore this possibility before doing an in-depth analysis. There are also numerous rare skin diseases that are caused by disturbances in genetic composition.


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Harlequin Ichthyosis

In the case of a person who suffers from this disorder, the skin becomes thick and appears like a scaly coat. The scaly skin is then shed at a faster pace, than a normal skin does. The person’s skin resembles the exterior of a fish, and even the hair appears scaly.

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Goltz Syndrome

Also known as, focal dermal hypoplasia, this skin disease is characterized by the appearance of white fat-filled lumps all over the skin. This is formed due to an excess of fat from the thin layer of skin. This disorder is also characterized by thinning of the skin and by red rashes all over it. There are other accompanying symptoms, such as brittle nails and fingers, presence of an extra finger or absence of one, as well as eyes that are under-developed. In some cases, the stomach, heart, lungs, and intestines could also be affected.

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When a person is infected by scleroderma, the skin becomes hard, and at times, red. The exact cause of scleroderma is not known.

Scleroderma is a chronic disorder that affects the skin, including hardened or tight skin, with swelling and thickening. Early symptoms of scleroderma involve just the surface of the skin or the ends of the fingers or hands and upper body.

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Cutaneous scleroderma can be can be classified as either limited or diffuse, meaning that it can become more widespread involving not only the skin, but also other joints, internal organs, and the blood vessels. It seems to affect women more than men, and usually appears between the ages of 30 to 65 years of age. The prevalence of scleroderma in the United States can be as high as 400 cases out of one million people. (Source:

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Urticaria is characterized by a wheel and flare reaction in which the skin develops hives. It would become red and itchy and is usually caused due to an allergy. Other causes include stress and pollution.

Raised red and white patches appear on the skin. They are accompanied by burning, intense itching, and stinging. Rubbing and scratching usually aggravate the condition. The outbreak of urticaria is sudden and the disease may affect any part or the entire body. The eruptions may be as small as pin heads or as large as a rupee. The eruption may fade in a few minutes or an hour in one place, but may appear in another.


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This is a genetic disorder, where the genes that are involved in the normal function of DNA repair are altered. This prevents skin repair when exposed to sunlight or powerful UV rays. Therefore, this is manifested as red patches on the skin and can affect exposed as well as un-exposed portions of the skin.

Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.1 These manifestations are due to a cellular hypersensitivity to ultraviolet (UV) radiation resulting from a defect in DNA repair. (Source:

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Recessive Dystrophic Epidermolysis Bullosa

This is a very rare disorder of the skin, due to the fact, that the skin is unable to produce a collagen-building protein. Since collagen is needed to keep the skin intact, it becomes very delicate and even, a slight touch or cut can damage the skin terribly. This is not limited to just the external skin. The internal lining of the mouth, intestines, and esophagus could also be affected.

Another rare type of epidermolysis bullosa, called epidermolysis bullosa acquisita, is an autoimmune disorder. It may be difficult to tell this condition apart from another autoimmune skin disorder called mucous membrane pemphigoid.

Depending on the type of epidermolysis bullosa, the condition can vary from minor blistering of the skin to a lethal form involving other organs. The condition generally starts at birth or soon after. Epidermolysis bullosa acquisita, however, usually appears in adults over age 50, although it can occur in children. Also, mild cases of epidermolysis bullosa simplex may remain undiagnosed until adulthood. (Source:

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Sweets Syndrome or Neutrophilic Dermatosis

This disorder occurs due to hypersensitive reactions due to allergies. Painful plaques appear all over the skin and the person gets a high fever.

Acute febrile neutrophilic dermatosis, also termed Sweet syndrome, is a reactive process characterized by the abrupt onset of tender, red-to-purple papules, and nodules that coalesce to form plaques. The plaques usually occur on the upper extremities, face, or neck and are typically accompanied by fever and peripheral neutrophilia.


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Morgellon’s Disease

Morgellon’s disease is relatively new and has not been studied completely as yet. This disease is characterized by reduced vision, itching, fatigue, mental disorders and memory loss or loss of concentration.

The Morgellons Research Foundation (MRF) is a 501(c)3 non-profit organization established in 2002 in honor of a two-year-old child with an unknown illness, which his mother labeled "Morgellons disease". The MRF is dedicated to raising awareness and research funding for this poorly understood illness, which can be disfiguring and disabling, and affects people of all age groups including an increasing number of children. The number of families currently registered with the MRF is believed to represent a fraction of the true number of affected families.



Images from Google Image

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Comments (17)

Thanks for this article. Very informative.

Those are rare and rarely heard skin diseases.

Well . . . this'll wake you up!

Ranked #1 in Skin Conditions

To Jonel, Chan and James, thanks a lot.

I love this share

what terrible skin conditions,

Ranked #1 in Skin Conditions

Thanks a lot Lucia and Carol.

Voted up

Ranked #1 in Skin Conditions

Much appreciated Lucia.

Scary stuff!

Ranked #1 in Skin Conditions

Thanks for the read Gayle.

out of votes so promoted

Came back to vote

Thanks for the insightful article!

Ranked #1 in Skin Conditions

Welcome and appreciated Daniel.

Ranked #1 in Skin Conditions

Just revisited for a recap, thanks everyone!

We're blessed that we are born with normal skins. Very informative article.