What is Hereditary and Acquired Ichthyosis Vulgaris?
“Ichthyosis” is a term used for a skin condition that causes widespread and prominent scaling but doesn’t include any redness. The name comes from the Greek word “ichthy,” which means fish. This condition can be inherited (you can get it from your parents) or acquired (obtained after birth for various reasons). Inherited ichthyosis itself is further divided into two categories – syndromic (which comes with other health problems) and non-syndromic (where the skin condition is the only problem).
Ichthyosis vulgaris (IV) is an inherited non-syndromic type of ichthyosis that shows up very early in a person’s life. It’s associated with changes or defects (also called mutations) in a specific gene named FLG. This gene is responsible for helping your skin protect your body, so when it doesn’t work correctly, it can lead to problems with the skin’s protective barrier. The first-ever reported case of ichthyosis vulgaris was documented back in 1806, and it was referred to as “ichthyose nacrée.” Later on, the term “ichthyosis” was introduced by a person named Willan.
What Causes Hereditary and Acquired Ichthyosis Vulgaris?
Hereditary ichthyosis (HI) is a condition that you inherit from your parents and usually starts when you’re a child. Ichthyosis makes your skin dry and scaly, like a fish. On the other hand, acquired ichthyosis (AI), is not inherited but can be connected to other health conditions or medication.
Some types of cancer like Hodgkin’s disease and multiple myeloma, or certain skin cancers, can lead to acquired ichthyosis. It can also happen if you have another health condition like systemic lupus erythematosus, which is an autoimmune disease where your immune system mistakenly attacks your own body, or acquired immunodeficiency syndrome (AIDS), which is a disease that weakens your immune system. Additionally, diseases that make it hard for your body to absorb fats and vitamins, such as celiac disease or Crohn’s disease, can also cause acquired ichthyosis.
Some medications can also cause acquired ichthyosis. These medications can include ones to lower cholesterol, a medicine called allopurinol which is used to treat gout, or certain cancer treatments.
Risk Factors and Frequency for Hereditary and Acquired Ichthyosis Vulgaris
The most common type of ichthyosis is IV, affecting roughly 1 in every 100 to 250 individuals. This skin condition is usually semi-dominantly inherited, meaning, it has a milder effect in those who inherit only one copy of the faulty gene. Almost all people who inherit the gene, around 80% to 95%, will develop the condition. Symptoms of this condition usually start in infancy, with most patients showing obvious signs by the age of five. It’s important to note that this skin condition does not favor any particular sex or ethnic group.
Signs and Symptoms of Hereditary and Acquired Ichthyosis Vulgaris
Ichthyosis vulgaris is a skin condition that can cause various symptoms, ranging from mild dry skin to large, adherent scales, giving the appearance of lizard skin. This condition usually starts to show in infancy or early childhood. The key symptom is the appearance of fine, whitish scales primarily on the outer parts of limbs. The inner parts of the limbs are usually unaffected as they maintain more moisture. However, in individuals with more severe forms of the condition, the scales can be larger and adhere centrally, especially on the lower limbs and trunk. These individuals can also experience cracks and hardening of the skin on the palms of the hands and the soles of the feet. In very severe cases, their face might also be affected—with mild ectropion (eyelid turning outwards) and cracks around the mouth—and there can be extensive scaling on the scalp. The nails and mucous membranes are generally not affected.
The condition tends to worsen during the winter, but may improve in the summer when the weather is humid. Ichthyosis vulgaris is a lifelong condition, but its symptoms often become less pronounced with age.
It’s worth noting that between 25% to 50% of individuals with ichthyosis vulgaris also struggle with associated conditions such as atopic dermatitis, asthma, and hay fever. This is primarily due to a deficiency in filaggrin, a protein that helps maintain healthy skin. Other skin conditions like keratosis pilaris (small, rough bumps) and palmoplantar hyperlinearity (increased skin lines on the hands and feet) can also be seen alongside ichthyosis vulgaris.
Testing for Hereditary and Acquired Ichthyosis Vulgaris
If you’re visiting your doctor for skin-related problems, they might consider the possibility of a condition called ichthyosis vulgaris. This decision could be influenced by factors like whether the condition runs in your family, and what your skin looks like. They’ll look for things like skin color, the pattern of any scaly patches, and signs like redness or a shiny, tight appearance of the skin at birth.
Diagnosing ichthyosis vulgaris isn’t just about what symptoms you have and when they started. The doctor might also take a small sample of your skin to examine under a microscope (a process called histopathologic examination), or check for non-skin related symptoms. In some cases, you might also be offered a genetic test. This type of test can be useful both for confirming the diagnosis, and for providing information that might be helpful if you’re considering having children in the future.
Treatment Options for Hereditary and Acquired Ichthyosis Vulgaris
The most common treatment for both HI and AI involves moisturizing the skin and applying a special cream to help lock in the moisture. One effective option is an emulsion (a blend of water and oil) made with urea, ceramides, and natural moisturizing factors, applied twice a day. This can help keep the skin hydrated and supple.
Other helpful treatments can include topical retinoids and alpha-hydroxy acids. Topical retinoids are creams or gels that contain forms of Vitamin A. They work by reducing stickiness between skin cells, promoting cell turnover, and decreasing the production of a protein called keratin, which can clog pores when produced in excess.
Sometimes, mild steroid creams can also be used to help reduce itching. Additionally, treating any underlying health conditions can often help to improve the skin’s condition.
What else can Hereditary and Acquired Ichthyosis Vulgaris be?
When a doctor is trying to diagnose ichthyosis vulgaris, which is a condition that causes dry, scaly skin, they need to consider that the symptoms might actually be due to a different condition. These could include:
- Allergic contact dermatitis (an allergic skin reaction)
- Eczema (a condition that makes your skin red and itchy)
- Drug eruptions (rashes caused by a reaction to medication)
- Harlequin ichthyosis (a severe genetic skin disease)
- Irritant contact dermatitis (skin inflammation caused by irritating substances)
- Lamellar ichthyosis (a rare genetic skin disorder)
- X-linked ichthyosis (a generally mild skin disorder that occurs mainly in males)
What to expect with Hereditary and Acquired Ichthyosis Vulgaris
Hyper IgM syndrome (HI) generally has a good outlook, as symptoms often lessen as a person ages. However, the outlook for Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) or Autoimmune Polyendocrine Syndrome Type 1 (APS-1), which are also known as Autoimmune Polyglandular Syndrome Type 1 (AI), varies and depends on how severe the underlying disease or cancer is.
Possible Complications When Diagnosed with Hereditary and Acquired Ichthyosis Vulgaris
If you have excessive itching, it could cause your skin to become thick and leathery. Conditions like atopic dermatitis, hay fever, and asthma are also common. Secondary bacterial infections may arise as well. If your skin becomes excessively scaly, it could interfere with your body’s ability to sweat. In severe cases, the loss of proteins and minerals from your skin’s scales could lead to dehydration and nutritional deficiencies.
- Excessively thick and leathery skin due to lots of itching
- Atopic dermatitis, hay fever, and asthma
- Secondary bacterial infections
- Difficulty sweating due to excessive scaly skin
- In major cases: loss of needed body proteins and minerals due to skin scaling which can result in dehydration and nutritional deficiencies
Preventing Hereditary and Acquired Ichthyosis Vulgaris
The study concludes that group therapy education programs appear to be very beneficial. Generally, these programs can really help with managing skin genetic disorders. They do this by fostering a sense of trust between patients, their families, and caregivers. Not only that, but they also encourage open communication and foster independence in patients and their families.
