11 Rare Skin Diseases Which You Never Knew Existed

There are so many people living in America who suffer from at least one skin problem. There are some that many of us have heard of, such as rosacea, eczema and acne, and chances are that you yourself might be suffering from one of them.

There also exists a wide spectrum of rare skin diseases, which you never knew existed, ranging from mild to fatal. In some patients, these rare skin conditions affect their quality of life so badly that they are unable to function.

Let’s talk about these relatively unheard of skin diseases.

1. Harlequin Ichthyosis^{(1, 2, 3)}

   Description: Harlequin ichthyosis is a rare genetic disorder of the skin where children are born with thick and hard skin, which looks like scales shaped like diamond across their bodies.

   Symptoms: These scales are divided by deep cracks and can affect the shape of the patient’s ears, eyelids, nose and mouth. This rare skin disease can also limit the movement of the chest and limbs.

   Cause: Up till now, about 200 cases of Harlequin ichthyosis have been reported all over the world. The cause of Harlequin ichthyosis is a mutation in the ABCA12 gene that is responsible to make a vital protein to allow the skin cells to develop normally. This genetic mutation hinders movement of lipids to the top layer of the skin and causes development of plates which look like scales. These scales cause difficulty in: fighting any infection; managing the temperature of the body and managing the loss of water.

   Diagnosis: This genetic skin disorder is an autosomal recessive disorder that’s passed on via genetic mutation. Genetic testing needs to be done to understand who are at risk for inheriting this as biological carriers rarely show symptoms.

   Treatment: Treatment for harlequin ichthyosis is the use of skin-repairing moisturizers and skin-softening emollients. Oral retinoids are prescribed for severe cases of harlequin ichthyosis.

2. Hidradenitis Suppurativa^{(4, 5, 6)}

   Description: Hidradenitis suppurativa is a persistent, long term inflammatory skin disease, characterized by development of lesions on parts of the body where skin meets skin. Some of the common places for the lesions of Hidradenitis suppurativa breakouts are: breasts, underarms, upper thighs, buttocks and groin.

   Cause: The cause of Hidradenitis suppurativa is not clear, but the role of hormones is suspected in the development of the lesions, as this condition usually begins around the time of puberty.

   Risk Factors: Who gets this disease is thought to depend on factors such as immune system and genetics. Around 2% of the population suffers from Hidradenitis suppurativa. This condition is more commonly seen to occur in individuals who smoke or are obese. Females are at three times more risk for this disease than males for developing Hidradenitis suppurativa.

   Symptoms: The starting symptoms of Hidradenitis suppurativa resemble boils or pimples. The lesions can remain on the skin, can clear up and reappear. If Hidradenitis suppurativa is not treated, then the severity of the symptoms increases and additional symptoms develop, such as: infection, scarring and lesions that rupture and release a foul-smelling fluid.

   Complications: People suffering from hidradenitis suppurativa are more susceptible for developing certain problems or comorbidities like: type 2 diabetes, acne, squamous cell carcinoma; inflammatory bowel disease; polycystic ovarian syndrome; follicular occlusion tetrad and metabolic syndrome.

   Cure and Treatment: Hidradenitis Suppurativa has no cure; however, there are various treatment options to alleviate and manage the symptoms and these are: hormone therapy, topical ointments, anti-inflammatory drugs and in severe cases, surgery.

3. Morgellons Disease^{(7, 8, 9)}

   Description: This is another rare skin disease, which not many knew existed characterized by small particles and fibers and out of skin sores, resulting in a crawling sensation on the skin. These lesions can be seen on the extremities, trunk and the head.

   Prevalence: Not much is known about Morgellons disease; however, according to the Morgellons Research Foundation it seems to have affected more than 14,000 families.

   Cause: Some experts think that Morgellons disease is a psychological problem as the symptoms of this condition resemble delusional infestation, which is a mental health condition.

   Risk Factors: Middle-aged white women suffer more from Morgellons disease and this skin condition is also linked with Lyme disease.

   Symptoms: Symptoms of this disease cause pain, but this rare skin disease is not fatal. Some of symptoms of Morgellons disease are: depression; fatigue; anxiety; itchy skin sores/rashes; black fibrous like material within and on the skin.

   Treatment: As there is no clear understating of Morgellons disease, there is not clear cut treatment for this rare skin disease. People suffering from Morgellons disease is advised to keep in touch with their doctors and get treatment based on their symptoms.

4. Inverse Psoriasis^{(10, 11, 12)}

   Description: Also known as intertriginous psoriasis, Inverse psoriasis looks like Hidradenitis suppurativa where there is formation of red lesions on the areas where skin meets skin. These lesions are smooth and shiny in appearance.

   Prevalence: About 3% of people all over the world are affected with Psoriasis and 3 to 7% percent of these people have inverse psoriasis.

   Cause: Patients suffering from inverse psoriasis often suffer from at least one other form of psoriasis on other parts of their body. The exact cause of psoriasis is not clear but immune system and genetics are thought to be the primary contributing factors.

   Symptoms and Treatment: The skin present in high-friction areas, where the skin gets rubbed against skin is sensitive and for this reason treatment becomes challenging. Topical ointments and steroid creams are prescribed, but if they are used excessively, then can cause further painful irritation. For severe cases of inverse psoriasis, treatment can consist of injectable biologics and ultraviolet B (UVB) light therapy for managing this rare skin disease.

5. Elastoderma^{(13, 14, 15)}

   Symptoms: Elastoderma is yet another unheard of skin condition where the patient has increased elasticity or looseness of the skin on some specific parts of the body resulting in sagging and hanging of the skin in loose, saggy folds. Elastoderma can develop on any area of the body; however, the extremities and the neck more so and around the knees and elbows are the most affected areas of the body.

   Cause and Prevalence: Elastoderma is seen in lesser than 1 in 1,000,000 individuals all over the world. The cause of elastoderma is not yet been indentified. This skin condition is thought to occur because of excessive production of elastin, which is a protein responsible for providing structural support to tissues and organs.

   Treatment and Cure: Elastoderma has no cure and there is not correct treatment for this rare skin condition. Surgery is chosen as treatment option by some patients to excise the loose skin portions; however, this saggy skin commonly comes back after the surgery too.

6. Pilonidal Sinus Disease^{(16, 17, 18)}

   Description/Symptoms: This rare skin disease causes the development of small tunnels or holes at the crease or the base of the buttocks. The symptoms of this skin disease are not always noticeable and this is the reason why many patients do not consult doctor or even realize that they are suffering from this disease until prominent symptoms develop.

   Cause: Pilonidal sinus disease develops when there is rubbing of the hair present between the buttocks. This pressure and friction pushes these hairs inward and make them ingrown.

   Risk Factors: Pilonidal sinus disease is seen to occur in 10 to 26 people out of 100,000 people. Many patients suffering from this unheard of skin disease are often between the ages of 15 and 30. Men seem to suffer twice more from this skin disease than women. This skin disease commonly affects individuals who have sedentary jobs which require them to sit for long hours at a time. Pilonidal sinus disease is also a co-morbidity of hidradenitis suppurativa.

   Treatment: Treating an infected pilonidal sinus is done depending on certain factors, such as: the abscess size; the patient’s symptoms and if this is a recurring infection or a new infection. Treatment consists of draining the infected pilonidal sinus along with the use of topical ointments, hot compresses and antibiotics. If you suffer from recurring abscesses, then it is important to consult your doctor about other surgical options.

7. Cutaneous Crohn’s Disease^{(19, 20, 21, 22, 23, 24)}

   Description and Prevalence: Crohn’s disease is a known disease, which causes inflammation of the gastrointestinal tract. Around 780,000 people in America suffer from this disease with about 38,000 new cases developing every year.

   Cause: Experts think immune system, genes and the environment are responsible for the development of Crohn’s disease. About 20 to 30% patients suffering from Crohn’s disease suffer from outbreak of skin lesions and this is referred to as a cutaneous outbreak.

   Symptoms: Cutaneous lesions from Crohn’s resemble genital warts and occur after the bowel condition has manifested on the skin or another organ present outside the GI tract, such as gallbladder, liver, eyes and even joints too.

   Cure and Treatment: Crohn’s has no cure. Surgery is the main line of treatment for cutaneous lesions. If there is spreading of the Crohn’s and its lesions, then it can cause lot of pain and cause life threatening complications. There are very few treatment options for treating this condition as of now.

8. Pemphigus Vegetans^{(25, 26, 27, 28)}

   Description and Cause: Pemphigus vegetans is classified as group of autoimmune diseases, by the National Institutes of Health, which makes your immune system attack your healthy cells of the epidermis, which is uppermost layer of the skin. Just like in hidradenitis suppurativa, the blisters or lesions in Pemphigus vegetans develop where the skin naturally rubs or touches together along with developing on the: genital areas, nose, mouth, eyes and throat.

   Prevalence: Pemphigus vegetans is a type of pemphigus vulgaris and affects about 1 to 2 percent of all the pemphigus patients all over the world.

   Treatment: If Pemphigus vegetans is not treated, then it can become life threatening. Treatment consists of removing the blisters or lesions and preventing them from recurring. Steroids are the first line of treatment for lowering the inflammation. Treatment for lesions in the throat and mouth consist of medicated mouthwash or a corticosteroid known as clobetasol for treating oral problems. Other than medications, patient can opt for surgery to remove blisters/lesions along with cleaning and bandaging the area every day.

9. Sneddon-Wilkinson Disease^{(29, 30, 31)}

   Description: This skin disease is characterized by development of pus filled lesions in clusters on the skin. Sneddon-Wilkinson disease is also known as sub-corneal pustular dermatosis.

   Cause: The cause of this disease is not clear and this condition is commonly misdiagnosed due to it being so rare. Sneddon-Wilkinson disease usually affects women over the age of 40.

   Symptoms: As seen in hidradenitis suppurativa, in this condition too there is formation of bumps with pus inside them between the areas of the skin that gets rubbed together a lot. The cutaneous lesions of this condition form between the skin folds on the torso and genital area and due to the friction they burst open. Along with the popping of these bumps, patients also experience burning and itching sensation too. These are followed by discoloration and scaling of the skin. Sneddon-Wilkinson disease is painful and chronic; however, not life threatening.

   Treatment: Treatment for Sneddon-Wilkinson disease is an anti-infective known as dapsone, with a dose of 50 to 200 milligram mg taken daily by oral route.

10. Dowling-Degos Disease^{(32, 33, 34)}

    Description: Dowling-Degos disease is a skin condition resulting from a genetic disorder, and causes darkening of the skin, especially in areas where the skin folds, such as the joint areas, groin and armpit. The changes of the pigment also affect the scalp, hands, face and neck; however, this is less common.

    Symptoms: Many of the lesions of Dowling-Degos disease look like blackheads; however, there can be development of some acne like red spots around the mouth. These lesions can also develop on the scalp as bumps filled with fluid. Patients can also experience burning and itching in these lesions of Dowling-Degos disease.

    This rare skin disorder tends to occur in early adolescence or late childhood. However, some individuals can have the lesions of Dowling-Degos in the adulthood too. This skin condition is not fatal; however, patients do suffer from anxiety and distress over this disease.

    Cure and Treatment: There is no cure for Dowling-Degos and treatment consists of topical steroids, laser therapy and retinoids with varying results and not necessarily effective.

11. Inverse Lichen Planus Pigmentosus^{(35, 36)}

    Description: This skin disorder is an inflammatory disease characterized by itchy and discolored and bumps in the folds of the skin.

    Prevalence: About 20 cases have been reported all over the world and Inverse lichen planus pigmentosus seems to affect people from Asia more.

    Cause: The cause for Inverse lichen planus pigmentosus is not known.

    Symptoms: The lesions of Inverse lichen planus pigmentosus are flat discolored macules, which develop in clusters. These lesions often do not have pus in them, but they can have though. There are some patients whose skin naturally clears up as time goes on; whereas many patients have persistent symptoms for many years.

    Treatment: Inverse lichen planus pigmentosus is not a life threatening condition and treatment is done using topical corticosteroids for healing and in some cases this treatment helps with pigmentation also.

There is no doubt that having a skin problem/disease of any type is tough on a person emotionally, physically and psychologically. One should consult your doctor and get treatment accordingly for faster results. The right dermatologist will find out the cause of your symptoms and come up with the best treatment plan for managing and treating your skin condition.

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