Approach Considerations
Skin moisturizers are the main treatments for lamellar ichthyosis. Moisturizers serve as a barrier, and they also help in the removal of scales. Microfiber washcloths and urea also are used to remove the scales. For neonates, electrolytes should be monitored closely. The hyperkeratosis can interfere with sweat gland function, leading to disordered thermoregulation. Some patients may have severe heat intolerance. Oral retinoids are used for the purposes of speeding up epidermal turnover, and they can improve or prevent some of the consequences of the disease. [11] Oral retinoids may cause an increase in sweating, leading to improved heat tolerance. Oral retinoids may also decrease the thick periocular scale and decrease the propensity to develop ectropion. Artificial tears and eye lubricants are effective in patients with ectropion; surgery is suggested in those with severe disease. [17]
Transfer the newborn to the neonatal intensive care unit for close monitoring of fluids, electrolytes, and signs of sepsis and placement in a high-humidity incubator. Manual debridement of the collodion membrane is not recommended.
Surgery is occasionally necessary for severe ectropion, with skin grafts being the usual therapy. Inverting sutures may also stabilize the ectropion as the child grows, and it is surprisingly well tolerated. [18]
Consultations
Consult a dermatologist for the evaluation and treatment of the skin.
Consult an ophthalmologist for the evaluation and management of ectropion from birth.
Consult a genetics counselor for a discussion of the risks of subsequent children being affected. As with most genetic testing, prenatal diagnosis is controversial and can be a potential area for medicolegal problems. For severe congenital ichthyosis, as is the case with other genetic conditions, perhaps even earlier prenatal diagnosis by completely noninvasive analysis of DNA from fetal cells in maternal circulation, and preimplantation genetic diagnosis will be available in the future. [3]
Activity
A potential for heat intolerance and heat stroke is present; however, with proper counseling, activity does not need to be limited.
Prevention
Prenatal diagnosis is controversial. A fetal skin biopsy at 22 weeks may aid in prenatal diagnosis. In patients with a known gene locus, DNA linkage analysis may be useful. [19]
The quality of life of patients with the more severe congenital ichthyoses is often seriously affected and the parents' request for prenatal diagnosis is not easily ignored. Because of advances in the understanding of the causative genetic defects for severe congenital ichthyosis, making DNA-based prenatal diagnosis is now possible for several congenital ichthyosis, using chorionic villus or amniotic fluid sampling procedures early in pregnancy, with a lower risk to fetal health and with a reduced burden on the parents. [3]
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Collodion baby with translucent membrane of the body.
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Keratoderma of the palms in a patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.
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Inflexible fingers due to taut skin in a young patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.
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Nail dystrophy and inflammation of the nail folds. Courtesy of M. Bryan, MD.
