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Ichthyosis: Skin Disorders

Medical Ichthyosis

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  Written by Ingrid Polcari MD on 05 Jan 2015

Ichthyosis is a spectrum of skin disorders that are characterized by dry skin, sometimes causing “scales” on the skin surface. The various types are classified according to their severity, genetics and sometimes from biopsy results (histology).

The mild forms are very common (1 in 2501) and have presentations and symptoms similar to dry skin, like eczema. In fact, many people are not even aware that they have a mild form of ichthyosis. The severe forms are extremely uncommon (1: 300,000) and require lifelong attention. Children and adults with severe ichthyosis require special skin care under the direction of a dermatologist and require routine visits to ear and eye doctors.

The severe forms are the ones that are likely to be mentioned on a special need referral. Mild forms are not very noticeable and would not impact functioning nor likely to come to attention in a busy medical evaluation in institutional care. Severe forms are difficult to miss because they have bullae (blisters) or obvious skin scaling. In general, children with ichthyosis have healthy brains, hearts and other organs. Rarely, the skin findings are part of a larger genetic syndrome that may include eye problems (corneal opacities), deafness, teeth changes and mental retardation. These syndromes would generally be noticed early in life.

Therapies can help but there are no current cures. Mild forms are treated nicely by lotions and creams. If the child has a more severe form, then a special skin care routine that includes prescription medications is needed. An oral medicine called a“retinoid” (such as Accutane) is sometimes used to improve the skin.3 There are national organizations that advocate for families and support research related to ichthyosis.

References

1. Smith FJD, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38(3):337-342.

2. Paller A, Mancini A. Hurwitz's clinical pediatric dermatology: a textbeook of skin disorders of childhood and adolescence. 4th ed. 2011: 92-114.

3. Brecher AR, Orlow SJ. Oral retinoid therapy for dermatologic conditions in children and adolescents. J Am Acad Dermatol. 2003;49(2):171-182

This article was generously shared by Dr. Judith Eckerle of the University of Minnesota,  Adoption Medicine Clinic. Child referrals are becoming increasingly complex, and adoption medicine professionals are identifying many more children with special needs from all countries that participate in intercountry adoption, as well as from the United States. To help families prepare for these changes, Dr. Eckerle and other medical specialists are writing a book: Health Topics For Preadoptive Families.

 




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