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Ichthyosis, Lamellar

NORD is very grateful to the members of the Medical Advisory Board of the Foundation for Ichthyosis & Related Skin Types for assistance in the preparation of this report.

Synonyms of Ichthyosis, Lamellar

  • collodion baby
  • ichthyosis congenita
  • lamellar ichthyosis, type 1 and type 2
  • non-bullous congenital ichthyosiform erythroderma (non-bullous CIE)

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result of this retention is the formation of scale.

Symptoms

Lamellar ichthyosis is present at birth. Many babies born with lamellar ichthyosis are born as "collodion babies", so called because they are covered with a clear membrane (the collodion). Sometimes described as having a shellacked appearance, these newborns have skin that can be red or dark, tight and split. Often the eyelids and lips are forced open by the tightness of the skin, and there may be contractures around the fingers. Problems with temperature regulation, water loss, secondary infections, and systemic infection can occur in the newborn with lamellar ichthyosis.

The collodion membrane is shed a few days to a few weeks after birth, leaving the newborn covered with broad, dark, plate-like scales separated by fissures that may be superficial or deep. People with lamellar ichthyosis often have trouble closing their eyes completely because of the tightness of the skin around the eyes and eyelids. In some cases, the skin around the eyes pulls so tightly it causes they eyelids to turn outward exposing the inner red lid and causing continuous irritation. This condition is called ectropion. Some physicians recommend plastic surgery to correct it because if left untreated, damage to the cornea can develop leading to impaired vision. People with lamellar ichthyosis may also have thickened nails and hair loss due to the thickness of the scales on their scalp. They may also have reddened skin (erythroderma), thickened skin on the palms of the hands and soles of the feet, and decreased sweating with heat intolerance.

Causes

Lamellar ichthyosis may be caused by mutations affecting several different genes. Three of these genes have been identified; they are the gene encoding the epidermal enzyme Transglutaminase 1 and two genes encoding two distinct but related enzymes, 12(R)-lipoxygenase and lipoxygenase-3. Transglutaminase 1 is an important enzyme responsible for cross-linking epidermal proteins during the formation and maturation of the stratum corneum. There is also evidence for more genes that are yet to be identified.

The mutations that cause lamellar ichthyosis are recessively inherited. In recessive disorders the condition appears when the person inherits a defective gene for the same trait from each parent. If the individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but will not show the condition. The risk of transmitting the disease to the children of a couple, both of whom are carriers for the recessive disorder, is approximately 25 percent per pregnancy.

Affected Populations

Lamellar ichthyosis is a very rare disorder occurring in less than one in 200,000 people. Lamellar ichthyosis is not limited by gender, race or ethnicity; it occurs in all populations.

Related Disorders

Symptoms of the following disorders may be similar to those of lamellar ichthyosis. Comparisons can be useful for a differential diagnosis.

"Ichthyoses" or "disorders of cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The retention of an abnormally large number of squames is thought to be caused by a defect in the metabolism of the skin cells known as "corneocytes" or the fat-rich matrix around these cells. These cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (See "Ichthyosis" in the Rare Disease Database.)

Ichthyosis congenita (collodion baby; congenital ichthyosiform erythroderma; xeroderma; desquamation of the newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry, and rough skin with large coarse and fine white scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet can be abnormally thick. (For more information, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.)

X-linked ichthyosis is an inherited skin disorder that affects males. It is caused by a deficiency of the enzyme steroid sulfatase. It is characterized by brownish scales on the back of the neck, back and legs.

Standard Therapies

Lamellar ichthyosis is treated topically with skin barrier repair formulas containing ceramides or cholesterol, moisturizers with petrolatum or lanolin, and mild keratolytics (products containing alpha-hydroxy acids.) Severe lamellar ichthyosis can be treated systemically with oral synthetic retinoids. Retinoids are only used in severe cases of lamellar ichthyosis due to their known bone toxicity and other complications.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about current research related to ichthyosis, contact the Foundation for Ichthyosis & Related Skin Types listed in the Resources section of this report.

Ichthyosis, Lamellar Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

JOURNAL ARTICLES
Small K, Ginsburg H, Greco MA, Sarita-Reyes C, Kupchik G, Blei F. More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities. Lymphat Res Biol. 2008;6(1):39-44

Sathish Kumar T, Scott XJ, Simon A, Raghupathy P Vitamin D deficiency rickets with Lamellar ichthyosis. J Postgrad Med. 2007 Jul-Sep;53(3):215-7.

Chaurasia S, Das S, Ramamurthy B. Microbial keratitis in a case of lamellar ichthyosis.
Int Ophthalmol. 2007 Sep 9.

Elias PM, Williams ML. Enlightened Therapy of the Disorders of Cornification. Clinics in Dermatology. 2003; 21: 269-273.

Williams ML. Lamellar ichthyosis and Congenital Ichthyosiform Erythroderma (CIE).
Ichthyosis Focus. Fall 2003; 22(3): 1-4.

DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4: 81-95.

Buxman M, et al. Therapeutic activity of lactate 12% lotion in the treatment of ichthyosis. Active versus vehicle and active versus a petroleum cream. J Am Acad Dermatol. December 1986; 15(6): 1253-1258.

Williams ML, et al. Genetically Transmitted, Generalized Disorders of Cornification. The Ichthyoses. Dermatol Clin. January 1987; 5(1): 155-78.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/03/31 00:00:00 GMT+0

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