Table of ContentsView AllTable of ContentsArgyriaErythropoietic ProtoporphyriaHarlequin IchthyosisElastodermaInterstitial Granulomatous DermatitisPemphigusAcral Peeling Skin SyndromeFrequently Asked Questions
Table of ContentsView All
View All
Table of Contents
Argyria
Erythropoietic Protoporphyria
Harlequin Ichthyosis
Elastoderma
Interstitial Granulomatous Dermatitis
Pemphigus
Acral Peeling Skin Syndrome
Frequently Asked Questions
Skin conditions are common among people of all ages. Some skin diseases, such askeratosis pilarisorpsoriasis, affect millions of Americans each year.Skin disorders are typically easy to treat or so mild that they require no treatment. However, some skin conditions are so rare and severe that they require specialized medical treatment.
The following seven skin diseases are so rare that you may have never heard of them at all.
12 Causes of Skin Redness and Burning
Денис Безобразов / Getty Images
Argyriais a rare skin disorder that causes the skin to change color into a blue or grayish hue. The cause can be attributed to overexposure to silver.If a person ingests a large dose of silver or is exposed to small amounts of silver for a prolonged period, silver particles can deposit in the skin and stain the skin and mucous membranes bluish-gray or slate-gray.
The disease is not life-threatening, but the discoloration of the skin can pose challenges in day-to-day life. The pigmentation is permanent and almost untreatable.The prevalence of argyria is unknown.
This photo contains content that some people may find graphic or disturbing.See PhotoWikimedia Commons
This photo contains content that some people may find graphic or disturbing.See Photo
This photo contains content that some people may find graphic or disturbing.
Wikimedia Commons
Symptoms
The main symptom of argyria is blue-gray, metallic, or slate-gray skin. This condition usually begins with a gray-brown staining of the gums that later progress to involve large areas of the skin.
Other symptoms include:
Typically, the amount of pigment change in the skin depends on the level of silver in the body, and it can take a long time for symptoms to show.
Risk Factors
The biggest risk factor is silver abundance in the body. Exposure to silver can take place through occupational exposure like workers involved in silver mining, taking medications with silver salts such as eye drops, usingcolloidal silversupplements like those for arthritis and diabetes, and during certain surgical and dental procedures involving silver sutures and silver dental fillings.
Treatment
There is no cure for Argyria, but some treatment options are available for those with the disorder. To help lessen the skin pigmentation, using a 5% hydroquinone treatment could help reduce the amount of silver in the skin, making it look less blue or gray. Laser therapy has also been explored as a viable option for the treatment of the disease.
This photo contains content that some people may find graphic or disturbing.See PhotoDermNet NZ
DermNet NZ
EPP causes skin pain on exposure to sunlight, most often on the tops of the hands and feet, face, and ears. Pain can be severe and last days after sun exposure. Visible changes are mild in most cases. Other symptoms that can occur after being out in the sun in people with EPP include:
The symptoms of EPP tend to go away within one day and don’t generally lead to permanent damage. Symptoms are worse in summer and sunny climates. Over the years, the skin on the backs of the hands and cheeks can have some thickening with subtle pitted scarring.
People with EPP are also at a heightened risk of developing liver damage because of the high amounts of the protoporphyrin protein in their blood.
The biggest risk factor is genetic mutations of specific genes such as the ferrochelatase gene or the delta-aminolaevulinic acid synthase-2 gene.These mutations are inherited. Children and infants are found to develop symptoms early on in life when exposed to sunlight.
Iron supplementation should be avoided as iron can increase photosensitivity in EPP. Afamelanotide has been reported to be effective for EPP. It is approved for the treatment of EPP under orphan drug status. People with EPP who also have liver disease require specialist medical treatment and possibly a liver transplant.
People with this skin disorder have severely thickened skin with large, shiny plates of hyperkeratotic (thickening of the outer layer of the skin) scale and deep erythematous (red) fissures separate the scales.
Other symptoms include:
Harlequin ichthyosis is passed down through autosomal recessive genes, so the biggest risk factor is being born from both parents who have the affected gene. The likelihood of having a rare skin disorder is 25% if both parents pass down the gene. If only one parent has the gene, it’s unlikely that the condition will develop. The person will, however, become a carrier, and it can still be passed down to future children.
There is no cure for this skin disorder, so treatment focuses on protecting the skin and preventing infections.The thick plate-like outer layer of skin eventually splits and peels at birth, leaving the vulnerable inner layers of the skin exposed. Antibiotic treatment is needed to prevent or treat infections at this time.
Softening emollients, especially those containing urea, salicylic acid, or alpha hydroxy acids, are particularly effective when applied after bathing while the skin is still moist.These products work to keep the skin moisturised and pliable while preventing the cracking and fissuring that can lead to secondary bacterial infection. Early treatment with oral retinoids has also been shown to heal skin fissures, soften or resolve plate-like scales, and improve overall survival.
Elastoderma is a rare skin disorder that causes extreme looseness in the skin. It can affect any area of the body, but is most typically found on the skin of the neck, elbows, and knees. The cause of the condition is unknown, and it often occurs in people without a family history of the disorder.
Victoria Denisova / Getty Images
The main symptom of elastoderma is loose skin that sags or hangs in folds. The skin is not stretchy and can often appear wrinkled.
Other symptoms include:
Most people with the skin condition will have one or more symptoms. Eczema and bacterial infections on the upper layer of the skin have also been found in those with elastoderma.
The cause of elastoderma is largely unknown. It is thought to occur when there is an over-production of elastin in a specific area of skin.Elastin is a protein that is a vital component of skin and other connective tissues throughout the body. It is not clear what causes this increase in elastin in people with this condition.
There is no known cure for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.
Interstitial granulomatous dermatitis (IGD) is a rare skin disorder that presents as a particular pattern of inflammation on the skin, typically described as the rope sign. It is often found in people with autoimmune disorders, and is typically found in early childhood cases of Blau syndrome.IGD often occurs alongside other autoimmune diseases, mainlyrheumatoid arthritis.It’s thought that only 53 cases were reported in 2019.
The main symptoms of IGD is an inflamed rash, but there are also other symptoms, including:
This condition is most commonly found in middle-aged women.
The exact cause of IGD is unknown, but this condition has been associated with otherautoimmune diseases. Research has suggested that it is a cutaneous form of rheumatoid arthritis.
Other conditions that have been linked to IGD include:
IGD has also been associated with some forms of cancer includingleukemia,lymphoma,breast cancer,hyposquamous cell carcinoma, and endometrial neoplasia.
Various medications, particularly calcium channel blockers, lipid-lowering agents, angiotensin-converting enzyme inhibitors, antihistamines, anticonvulsants, and antidepressants have been associated with IGD.Anti-TNF agents such as etanercept, infliximab, and adalimumab are also linked to IGD.
Treatment options for the disease are typically topical steroids or hydroxychloroquine. A case report found that IGD associated with RA was successfully treated with etanercept, which resolved the skin lesions, suggesting that anti-TNF antibodies may be clinically effective for the treatment of IGD.
Pemphigusis an autoimmune skin disease that causes blisters and sores on the skin, in the mouth or throat, or on the genitals. The type of pemphigus depends on where the blisters form, and some are fatal if left untreated. Older adults tend to have this condition, but it can affect people at any age. Research has found that the prevalence of pemphigus is quite low in the United States at only 5.2 cases per 100,000 adults. The prevalence increases with age, and both men and women were affected equally.
The main symptom of pemphigus is blisters on the skin that rupture and become open sores. Blisters can appear suddenly and spread, and can linger for years. Sores heal slowly, and when they heal, they turn into a dark spot.
Pemphigus vulgaris (70% of all pemphigus cases) begins in the mouth and then occurs on the skin or genital area. Pemphigus foliaceus affects only the skin and often develops on the face, scalp, and upper body. There is also drug-induced pemphigus, which is. a result of taking certain medications.
Other symptoms of pemphigus can include:
Pemphigus is more common in people of Jewish or Mediterranean descent.Other factors that may increase a person’s chance of pemphigus include:
There is no cure for pemphigus, but there are some treatment options to help control the condition and prevent infection of the blisters.
The wounds are treated similarly to severe burns. They will be cleaned and protected from further contamination. Antibiotic medications will also be applied to the wounds to prevent infections.
Some medications used to help control symptoms include:
Soft diets may help until the lesions heal. Some foods may trigger the onset of more sores, including garlic, onions, and leeks. Also avoid foods that can cause irritation in the mouth like foods that are high in acids, spicy, or hard.
Autoimmune Skin Disorders
Acral peeling skin syndrome is a genetic skin disorders that lead to the painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.It is usually present at birth, but can appear later in childhood or in early adulthood. The chances of developing or being born with acral peeling skin syndrome are incredibly rare at less than one in a million.
Jiranan Wonsilakij / EyeEm
Other symptoms may include:
The affected areas typically heal without scarring. Acral peeling skin syndrome is not associated with any other health problems, and generally doesn’t significantly impair quality of life.
The biggest risk factor is being born to both parents with mutations in the specific gene that causes the disorder.
There is no cure for acral peeling skin syndrome. Treatment is centered on preventing skin damage and addressing symptoms as they occur.The first line of treatment for peeling skin syndrome includes skin-softening ointments and creams to reduce skin peeling. Typically, the best time to apply creams is when the skin is moist following a bath. The preferred ointments include Vaseline or plain petroleum jelly as other types such as corticosteroids and retinoids have shown no efficacy in the treatment of the condition and can even cause adverse reactions.
If blister develop, they may be lanced with a sterile needle. Light dressings should be applied to prevent infection.
Morgellons disease (MD) is known to cause hair-like fibers or filaments of different colors to come out of the skin. These filaments cause skin lesions to form, which can worsen and become an ulcer if they are continuously picked at. MD can also cause headaches, tinnitus (ringing sound in ears), emotional instability, cough, irregular heart rate, and more.
It is possible for people to live to adulthood with harlequin ichthyosis. There are not many cases of affected infants surviving through childhood into adulthood, but advancements in medicine and specialized treatment make it a possibility.
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