What are the other Names for this Condition? (Also known as/Synonyms)

• Ichthyosis Simplex
• IV (Ichthyosis Vulgaris)

What is Ichthyosis Vulgaris? (Definition/Background Information)

• Ichthyosis Vulgaris (IV) is an inherited skin disorder that manifests as dry scales, resulting in a rough-dry skin texture. In Ichthyosis Vulgaris, dry scales occur in the abdomen, chest, buttock, legs, and arms
• Ichthyosis Vulgaris belongs to the Ichthyosis family (a group of genetic skin conditions). A majority of Ichthyosis are rare skin conditions; however, IV is the most common type of Ichthyosis
• Ichthyosis, in general, is of many different types. Some types are congenital and others are acquired. Ichthyosis can also be present as an acquired symptom in other disorders
• There are five different types of inherited Ichthyosis disorders that include the following:
  • Ichthyosis Vulgaris
  • Lamellar Ichthyosis, Type 1 to Type 5
  • Epidermolytic Hyperkeratosis (or Bullous Ichthyosis)
  • Congenital Ichthyosiform Erythroderma
  • X-Linked Recessive Ichthyosis
• The pattern and extent of the scales can vary according to the type of Ichthyosis. Depending on the type of Ichthyosis, other symptoms, such as involvement of the eyes, may be noted
• The diagnosis for Ichthyosis Vulgaris usually involves complete medical history assessment, physical examination, and sometimes genetic testing to exclude other forms of ichthyosis
• Once the condition is diagnosed, a symptomatic treatment of Ichthyosis Vulgaris is undertaken, since the condition cannot be cured. This can help prevent complications such as skin infections (that may occur frequently otherwise)
• The prognosis of Ichthyosis Vulgaris depends on the severity of the signs and symptoms. Individuals with mild signs and symptoms have a better prognosis than those with severe conditions

Who gets Ichthyosis Vulgaris? (Age and Sex Distribution)

• Ichthyosis Vulgaris may be observed with a general incidence of 1 in 250-1000 population (some reports indicate a prevalence of 1 in 300). It is a common skin disorder
• The symptoms may occur after birth i.e., they are usually observed at 3-10 months. Generally, the inherited type occurs early in life (usually first 10 years of life) whereas the acquired type can occur later in life
• Ichthyosis Vulgaris can occur in both males and females; no predilection is noted
• The condition is seen all over the world; there is no particular geographical restriction or ethnic/racial preference

What are the Risk Factors for Ichthyosis Vulgaris? (Predisposing Factors)

• In case of inherited forms of Ichthyosis Vulgaris, a positive family history of Ichthyosis is an important risk factor

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ichthyosis Vulgaris? (Etiology)

• Ichthyosis Vulgaris (IV) is caused by an abnormality in the development of the part of the skin called epidermis. The abnormality occurs during development of the epidermis layer of the skin
• The condition is inherited in an autosomal dominant manner due to a defective gene. The gene involved with Ichthyosis Vulgaris is called the FLG gene (the locus 1q22 gene, called filaggrin, is mutated). This gene is responsible for making a protein called filaggrin (filament aggregating protein)
• Ichthyosis Vulgaris is not a contagious condition. IV is caused by a genetic defect, and it cannot be passed on from one individual to another through direct contact

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Ichthyosis Vulgaris?

The signs and symptoms of Ichthyosis Vulgaris (IV) vary from individual to individual. Some have mild signs and symptoms, while others have severe signs and symptoms. The signs and symptoms of Ichthyosis Vulgaris may include:

• Dry scaly skin: The dry scales occur in the abdomen, chest, buttock, legs, and arms. Generally, the antecubital fossa of the elbow joint (the crook/fold of the elbow) is spared
• Eye-related defects such as conjunctiva and eyelid abnormalities
• In IV, Salzmann nodules of the cornea are seen

How is Ichthyosis Vulgaris Diagnosed?

It is important to determine the type of Ichthyosis. Many different modalities of testing are used to determine the type of Ichthyosis. However, an accurate diagnosis may not be always possible.

Some of the diagnostic steps for Ichthyosis Vulgaris may include:

• A through family history and a complete physical examination
• Complete blood count (CBC) test
• Examination of peripheral blood smear under a microscope by a pathologist
• Genetic testing for specific type of mutations such as mutation in chromosome lq22 locus.
• Skin biopsy (of the affected skin area) is performed and sent to a laboratory for a pathological examination, who examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Blood tests and bone marrow biopsy in individuals where underlying leukemia is the suspected cause of acquired Ichthyosis Vulgaris

Note: Skin biopsy in Ichthyosis Vulgaris when examined under a microscope shows increased keratosis of skin, which is usually mild and decreases in granular cell layer. The dermis of the skin has no pathological changes.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ichthyosis Vulgaris?

Ichthyosis Vulgaris can lead to many complications and these may include:

• Dehydration requiring frequent fluid intake
• Infections of the skin requiring frequent medical attention
• Chronic blistering that may get secondarily infected
• Heat intolerance: Skin is a very important organ to maintain the body temperature. Individuals with Ichthyosis have low heat tolerance of the body, resulting in overheating. This may result in heat strokes, which can be a dangerous condition
• In Ichthyosis Vulgaris, increased risk of testicular cancer has been reported
• Individuals with Ichthyosis may have significant psychological issues. Due to abnormal skin, these individuals may face social ostracism. This can result in children and adults having low self-esteem and depression

How is Ichthyosis Vulgaris Treated?

Ichthyosis Vulgaris is treated symptomatically. Special attention is paid to each individual’s specific condition and needs. There is no cure for the disorder and often a lifelong treatment course is essential.

• Dermatologist’s consultation is very critical in the treatment of Ichthyosis Vulgaris. An ophthalmologist’s consultation is very important for eye-related abnormalities
• Medications, such as oral retinoid, to decrease scaling of the skin
• Antibiotic treatment may be prescribed for secondary skin infections
• Proper eye care for dry eyes through eye drops help in keeping the dry eye surface moisturized
• Moisturizing creams may be used for dry surface of skin in the affected areas. Reducing exposure can help in decreasing the dryness
• A social worker or a psychiatric consultation for social issues related to excessive dry skin areas
• Maintain good body hydration status
• The condition causes the body to overheat. Hence, avoiding excessive exercising, avoiding outdoor activities in hot sunny days, or not spending prolonged periods in hot sunlight is essential
• Psychological support is important to both the individual with Ichthyosis Vulgaris and the caregivers
• Long term treatment of IV is usually necessary in majority of cases

How can Ichthyosis Vulgaris be Prevented?

Currently, there are no specific methods or guidelines to prevent Ichthyosis Vulgaris, since it is a genetic condition.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Reducing exposure can help in decreasing skin dryness
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Ichthyosis Vulgaris

What is the Prognosis of Ichthyosis Vulgaris? (Outcomes/Resolutions)

• The prognosis of Ichthyosis Vulgaris depends on the severity of the signs and symptoms
• Mild, acquired cases are known to have a much better prognosis

Additional and Relevant Useful Information for Ichthyosis Vulgaris:

Numerous conditions can have skin symptoms resulting in dry scaly skin. They include:

• Acrodermatitis enteropathica
• Thyroid disorder causing eye symptoms
• Atopic dermatitis
• Viral infections, such as caused by herpes zoster virus, and HIV
• Kaposi sarcoma in patients with AIDS
• Retinitis pigmentosa
• Acute leukemia
• Psoriasis
• Sarcoidosis