By Virginia Sybert
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Extra resources for Genetic Skin Disorders, Second Edition
Et al. (2005). Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J. Clin. Invest. 115, 1777–1784. Authors were able to restore function in cultured keratinocytes from one patient by gene transfer, suggesting that this might be a way to approach therapy. Extensive electron micrographs from one patient are presented. Report describes two organelles—dense-cored granules and particles containing cored granules. The authors posit that these are abortive lamellar granules and suggest that this is additional evidence in favor of a lipid abnormality in harlequin ichthyosis.
It is important to recognize that even infants treated with retinoids may succumb during the newborn period. Harlequin ichthyosis is a severe disorder in which treatment with a medication, which has its own set of significant side effects, results in amelioration of a lethal disease to a severe one with questionable neurologic outcome. The decision whether to treat with retinoids needs to be made on an individual basis with the family. I do not personally support a wholesale recommendation for treatment.
EM. Unbroken concentric shells of tonofibrils encase the nucleus. The lamellar bodies are abnormal. The tonofilament desmosomal attachments are intact. In the gravior form, rudimentary tonofilaments are seen. There is no tonofilament clumping. BASIC DEFECT The basic defect may be due to mutations in KRT1, but this has been shown in only one family with atypical clinical features. They had severe palmoplantar hyperkeratosis. They did have the typical EM findings. TREATMENT Oral retinoids may be of some value.