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Lamellar Ichthyosis
Tuesday, 16 November 2004
Tuesday, 16 November 2004

What

Lamellar Ichthyosis (LI) is a rare, hereditary skin condition characterized by dry, thick, fish-like scaling of the skin. Ichthy means “fish” in Greek and lamellar means “thin layer.”

Who

LI is a rare disease. It is estimated to occur in 1 out of 300,000 children. Boys and girls of all races and ethnicities are affected equally.

Signs and Symptoms

Children with LI are born covered by a collodion membrane. This is a tough film which cracks when stretched and is usually shed within 2 weeks. Disorders other than LI can cause collodion and 10% of babies heal spontaneously. However, in LI after the membrane is shed, it leaves behind generalized scaling with redness of the skin. The scales can range from ones that are tiny and white, to ones that are thick, brown and plate-like. They are arranged in a mosaic pattern like fish skin. They are especially obvious in the armpits, inside the elbows, and in the groin and neck regions. The lips are not involved. Newborns are at risk for dehydration due to water loss through the skin. Also, the weakened skin barrier allows bacteria to enter through the skin and into the blood. Newborns, having weak immune systems, are at risk for severe life-threatening infections. In childhood, LI causes the skin to be thick, inflexible and tight, decreasing the child’s ability to move the joints and to close the eyelids (ectropion) and/or mouth (eclabium). This can be quite disfiguring. The thickened skin on the scalp causes hair trapping and results in scarring hair loss. The hair is usually thin and fine, and grows 2-3 times the normal rate. Loss of the eyelashes can also occur. The nails may be ridged and the skin underneath may be abnormally thick. Nails also grow 2-3 times the normal rate. Children with LI may also have redness of the eyes and small, deformed ears.

Possible Causes

LI is not caused by infection, so it is not contagious. It cannot be prevented. LI is an autosomal recessive disorder, which is an inherited genetic disorder where two defective genes are necessary to manifest symptoms. The parents of the affected child are healthy but each carries a copy of the defective gene. If both parents are carriers, about 25% of their children will develop the disease. Occasionally, spontaneous mutations in the gene are also responsible for LI in some cases. LI is caused by mutations in the TGM1 gene located on chromosome 14. The TGM1 gene makes a special protein that is involved in the formation of the outer layer of the skin. When the TGM1 gene is mutated, there is increased turnover of the skin lining. This results in the scaling seen in LI. Also, the amount of fat in the skin is reduced, increasing the risk for water loss through the skin. There are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. An autosomal dominant form of LI has been described. Type 2 LI is due to a mutation on chromosome 2.

Diagnosis

Initial suspicion of LI is usually a clinic diagnosis of the characteristic skin scales. Skin biopsy can help in the diagnosis of LI by differentiating LI from other causes of collodion and ichthyosis. Skin biopsy can also differentiate between the autosomal recessive and dominant forms of LI. This can help geneticists (doctors specializing in genetic diseases) determine the risk of future children being affected with LI.

Treatment

The baby born with collodion membrane should be transferred to a neonatal intensive care unit. There, the baby will be placed in a high-humidity incubator to prevent dehydration. Close monitoring for possible skin infection is important. Meticulous skin care in consultation with a dermatologist (skin doctor) will be started. Removal of the collodion by hand is not recommended. There is no cure for LI. Treatment aims to keep the skin well-moisturized and prevent infection and skin tightening. Skin moisturizers are crucial and should be applied daily after bathing while the skin is still wet. A special class of skin care products called alpha-hydroxy acids (i.e. Lac-Hydrin) can help decrease the thickness of the skin. Topical salicylic acid, the active ingredient in aspirin, can help remove the scaling. Topical retinoic acids such as tazarotene, which are commonly used for acne, can decrease scaling as well. Oral retinoids (i.e. Accutane) are reserved for severe cases because they can have serious side effects. Topical antibacterial ointments are useful to prevent and treat skin infections and control skin odor. Another topical agent called calcipotriol (Dovonex) may be used as well. It is very important to have regular follow-up with an eye doctor (ophthalmologist) to monitor for ectropion, which can lead to drying and scarring of the eye and eventual blindness. Hot environments should be avoided because the thick scales interfere with sweating and may precipitate heat shock.

Prognosis

Patients with LI have normal life spans. Many children with LI suffer psychological stress due to their abnormal appearance.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Foundation for Ichthyosis & Related Skin Types, Inc. (F.I.R.S.T.)
Provides education and support networks for families. Ichthyosis Information http://www.ichthyosis.com Contains children’s chat rooms and education for families.

Google Search for Lamellar Ichthyosis

References and Sources

www.emedicine.com/derm/topic190.htmwww.emedicine.com/derm/topic190.htm www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242300 www.scalyskin.org/column.cfm?ColumnID=13