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

• Ichthyosis Congenita Type 2
• Lamellar Ichthyosis, Type 1 and Type 2
• LI (Lamellar Ichthyosis)

What is Lamellar Ichthyosis? (Definition/Background Information)

• Lamellar Ichthyosis (LI) is a rare, inherited skin disorder that manifests as dry scales, resulting in a rough and dry skin texture. It is a congenital disorder belonging to the ichthyosis family (a group of genetic skin conditions)
• Ichthyosis, in general, is of many different types. Some types are congenital, while others are acquired. Ichthyosis can also be present as a finding in other systemic disorders
• There are many different types of inherited, skin only, or skin predominant ichthyosis disorders, with the common ones being: 
  • Ichthyosis vulgaris
  • Lamellar Ichthyosis, also known as Ichthyosis Congenita Type 2
  • Epidermolytic hyperkeratosis (or bullous ichthyosis)
  • Congenital ichthyosiform erythroderma also known as ichthyosis congenita type 1
  • X-Linked recessive ichthyosis
• The diagnosis for Lamellar Ichthyosis usually involves complete medical history assessment, physical examination, biopsy, blood tests, and genetic testing
• Once the condition is diagnosed, symptomatic treatment of Lamellar Ichthyosis is undertaken, since the condition cannot be cured. This can help prevent complications such as skin infections and eye complications
• The prognosis of Lamellar Ichthyosis 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 Lamellar Ichthyosis? (Age and Sex Distribution)

• Lamellar Ichthyosis occurs with a general incidence of 1 in 200,000-300,000 and it is a very rare disorder
• The prevalence in Norway is reported to be 1 in 90,000
• Lamellar Ichthyosis is an autosomal recessive condition. The findings are usually apparent at birth
• It can occur in both males and females, and 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 Lamellar Ichthyosis? (Predisposing Factors)

• In Lamellar Ichthyosis, a positive family history of ichthyosis is an important risk factor
• Lamellar Ichthyosis is an autosomal recessive disorder. It is more common in consanguineous marriages; that is, when the mother and father are close blood relatives

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 Lamellar Ichthyosis? (Etiology)

• Lamellar Ichthyosis 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
• Lamellar Ichthyosis is an autosomal recessive disorder and many genes have been implicated. The following are the current defective genes associated with the condition:
  • TGM1 gene: This gene is responsible for making a protein transglutaminase 1
  • ABCA12 gene: This gene is responsible for making a protein called ATP-binding cassette transporter 12
  • CYP4F22 gene: This gene is responsible for making a subfamily 4F protein called cytochrome P450
  • SDR9C7 gene: This gene reduces short chain fatty acids
  • SULT2B1 gene: This gene codes for the enzyme cholesterol sulfotransferase

Lamellar Ichthyosis is not a contagious condition. It is caused by a genetic defect. It cannot be passed on from one individual to another through direct contact.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Lamellar Ichthyosis?

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

• The signs and symptoms are present since birth
• Babies have a tight adherent covering on skin, called collodion membrane. It looks as though the skin is covered in a plastic wrap, or if common white glue was applied and allowed to dry
• All types of ichthyoses cause dry scaly skin
• At birth, temperature and ability to remain hydrated are impaired
• Eye-related defects such as conjunctival, eyelid, and corneal abnormalities
• Baldness, due to scarring at the opening of hair follicles, called scarring alopecia
• Defective nail growth called nail dystrophy
• Frequent infection due to poor skin barrier function
• Scale buildup in ear canals can lead to recurrent otitis externa
• Inability to maintain proper hydration resulting in frequent dehydration

Note:

• Many types of ichthyoses are caused by genetic defects. The signs and symptoms due to a particular genetic defect may vary significantly. This is called variable expression of a genetic defect
• Some types of ichthyoses may be associated with other conditions, such as testicular cancer, sterility in men, malignancy of various parts of the body, heart defects, deafness, hair loss, mental retardation, among others

How is Lamellar Ichthyosis 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 Lamellar Ichthyosis may include:

• A through family history and a complete physical examination
• Complete blood count (CBC) test
• Examination of peripheral blood smear under the microscope by a pathologist
• Genetic testing for specific type of mutations
• Ultrasonography may also show excess of amniotic fluid (polyhydramnios), in case of Lamellar Ichthyosis
• 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
• Fetal skin biopsy at 19th week of gestation will help in diagnosing specific types of Lamellar Ichthyosis

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 Lamellar Ichthyosis?

Lamellar Ichthyosis can lead to many complications that may include:

• Dehydration requiring frequent fluid intake
• Infections of the skin requiring frequent medical attention
• External ear infections from buildup of scale in the external auditory canal
• 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
• 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 Lamellar Ichthyosis Treated?

Lamellar Ichthyosis 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 Lamellar Ichthyosis. An ophthalmologist’s consultation is very important for eye-related abnormalities
• Medications, such as oral retinoids, 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
• Keratolytic and hydrating molecules such as lactic acid and polyethylene glycol can be used. Salicylic acid should be avoided, as the large surface area requiring treatment can lead to salicylism, the equivalent of aspirin overdose. The is a serious and possibly life-threatening issue
• A social worker or a psychiatric consultation for social issues related to excessive dry skin areas
• Maintaining 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. Air conditioning is very helpful in tropical climates

Long-term treatment of Lamellar Ichthyosis is usually necessary in a majority of cases.

How can Lamellar Ichthyosis be Prevented?

• Currently, there are no specific methods or guidelines to prevent Lamellar Ichthyosis, 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
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Lamellar Ichthyosis

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

• The prognosis of Lamellar Ichthyosis depends on the severity of the signs and symptoms. Severe congenital cases are known to have poor prognosis
• In general, the signs and symptoms of Lamellar Ichthyosis are severe, and it can result in a decreased quality of life

Additional and Relevant Useful Information for Lamellar Ichthyosis:

Numerous conditions can have skin symptoms resulting in dry scaly skin. A few of these include:

• The entire family of skin only/skin predominant ichthyoses
• The multiple syndromes with significant systemic disease also showing ichthyosis of the skin
• Acrodermatitis enteropathica
• Atopic dermatitis
• Psoriasis