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Rare Skin Diseases (pt. 1)

  • Writer: Leilani W
    Leilani W
  • Feb 15
  • 5 min read

While researching dermatology, one of the most shocking things that I remember was reading how dermatologists can identify and treat over 3,000 conditions/diseases. That’s a whole lot of things to remember…

In an attempt to at least become aware of some of these conditions/diseases, I'm going to start a new type of entry where we look at rare skin-related conditions. This will be a bit different from my “All About” series. It won’t be as in-depth, but more of an overview of each of these diseases: what they are, their causes, symptoms, and any other relevant information.



1) Epidermolysis Bullosa (EB)

What is it?: It's a group of rare diseases that are characterized by fragile, blistering skin.

Cause: inherited gene either from one parent (autosomal dominant inheritance) or both parents (autosomal recessive inheritance). This gene changes the body's production of proteins meant to maintain skin's strength.

Symptoms: skin that blisters easily, thin skin, milia (small white bumps), dental problems, trouble swallowing, itchy and painful skin; each type of EB has its specific symptoms, so it varies.


There are several types and subtypes of this condition. We are going to look at the 4 major types and what characterizes each one:

  1. Epidermolysis Bullosa Simplex: the most common type; blisters are usually seen on hands and feet and can be caused by minor friction or injury. It primarily affects the basal layer (the lower part of the epidermis)

  2. Junctional Epidermolysis Bullosa: usually severe; blisters can occur on the exterior (like the face or legs) and in the interior (in the mouth, stomach, intestines), but locations vary depending on the subtype. Affects the top portion of the basement membrane (between the epidermis and dermis).

  3. Dystrophic Epidermolysis Bullosa: causes a mutation in the production of a protein that connects or glues the epidermis and dermis together, leading to blisters occurring in the upper dermis. Symptoms can differ depending on whether the disease is recessive or dominant.

  4. Kindler Syndrome: blisters affect many skin layers, making each case different for each person, and there are no subtypes.


Unfortunately, there is no cure for this disease, but there are treatments and precautions to care for and prevent blisters.



2) Peeling Skin Syndrome

What is it?: excessive, painless peeling of the top layer either throughout the body or at a certain location.

Causes: a genetic mutation of the TGM5 gene, which is responsible for providing the instructions needed to make transglutaminase 5, an enzyme that plays a role in the protective barrier between the body and its environment. A shortage of this enzyme causes the outermost cells of the epidermis to peel off easily.

Symptoms: peeling, especially on the hands and feet, due to the moisture and friction in these areas, and red and itchy underlying skin.


Same as the earlier condition, there are no current cure but there are treatments that have shown a bit of improvement, including keratolytic agents (compounds that help shed the outer layer of the skin), urea (an ingredient that hydrates and exfoliates), and topical calcipotriol (a vitamin D derivative).



3) Blau Syndrome

What is it?: an inflammatory disease that affects children's skin, vision, and joints.

Causes: a mutation in the NOD2 gene, which overactivates the NOD2 protein. This overactivation affects immune responses and causes inflammation.

Symptoms: skin rashes, arthritis, and eye inflammation, all of which lead to several more complications throughout these regions.


The first sign of Blau Syndrome is inflamed skin rashes called granulomatous dermatitis, leading to scaly skin and nodules (hard bumps) called granulomas on the torso, arms, and legs.

Inflammation of the synovium (lining of the joints), aka synovitis, leads to arthritis. Tendons can also be inflamed, leading to tenosynovitis. This causes restriction of movement, joint pain, and swollen joints.

Swelling of the uvea (the middle layer of the eye) causes uveitis. Other parts of the eye, such as the retina (back layer) and optic nerves (transmits visual information from the retina to the brain), can also become inflamed. Uveitis leads to eye irritation/pain, photophobia (high sensitivity to bright light), blurred vision, red eye, and eye floaters (squigles, dots, or specks that appear in the field of vision)


Treatments that help ease symptoms include immunosuppressants (decrease the intensity of the body's immune system), anti-inflammatory drugs, topical eye medications, eye surgery, and physical therapy.



4) Xeroderma Pigmentosum (XP)

What is it?: a condition that causes extreme sensitivity to UV light, leading to increased risk of developing skin cancer.

Causes: genetic mutations in around 9 different genes involved in repairing damaged DNA. Buildup of DNA damage through UV exposure or chemicals causes cells to become cancerous or die.

Symptoms: blistering sunburns, freckles before age 2, photophobia, irritated eyes, telangiectasia (visible red or purple blood vessel lines), increased risk of actinic keratoses (precancerous, rough, scaly spots on the skin), and xerosis (dry skin). Additional problems include neurological issues, including poor coordination, difficulty walking/movement, dysphagia (difficulty swallowing), seizures, and loss of intellectual skills.


As mentioned earlier, those with xeroderma pigmentosum have a significantly increased risk of developing cancer: 10,000 times more likely to develop non-melanoma cancer (slower-acting, more common cancers), and 2,000 times more likely to develop melanoma cancer (faster-growing, more aggressive cancers).


Treatment options to help ease symptoms include eye drops, hearing aids, surgery (concerning vision or hearing problems), and vitamin D supplements.



5) Argyria

What is it?: a non-life-threatening condition that causes your skin to look blue or gray due to overexposion of silver.

Causes: too much contact with silver, either through ingestion, absorption, or inhalation. Certain dietary supplements (colloidal silver supplements), foods, or drinks include silver, and workplace environments that lead to constant contact with silver, like mining, jewelry making, or manufacturing, all contribute to overexposure and buildup of silver in the body. Argyria isn't as common today due to a decrease in the use of silver in manufacturing and medicine.

Symptoms: skin becomes blue-gray (can begin in a small area, then spread throughout one's body), hyperpigmentation, darker fingernails, macules (small bumps), fatigue, kidney damage, headaches, abdominal pain, and seizures. All of these symptoms vary depending on how much silver has entered the body.


There is no cure and it's hard to reverse the symptoms, but laser treatment has proven to help somewhat with discoloration.



Final Thoughts

Although these diseases may impact a very small number of people due to their rarity, recognizing and understanding their existence helps us be more aware of others' circumstances and also helps patients not feel judged.



A lab scientist is opening a file cabinet filled with files.

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-by Leilani W.
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