It is reported worldwide in all ethnic groups and affects almost exclusively males. (See "Overview and classification of the inherited ichthyoses".)ĮPIDEMIOLOGY - Recessive XLI is the second most frequent ichthyosis after ichthyosis vulgaris. An overview of syndromic and nonsyndromic ichthyoses ( table 1) is presented separately. This topic will review the clinical features, diagnosis, and management of XLI. Along with ichthyosis vulgaris, the phenotype of XLI tends to be milder than most other hereditary forms of ichthyosis.
X LINKED ICHTHYOSIS SKIN
The disease presents at birth or in early infancy with dry skin and a tendency to form scales on the extremities and trunk. Due to location of the STS gene within a small region of the X chromosome that escapes X-inactivation (lyonization), recessive XLI affects almost exclusively males. Often, however, the ichthyosis is a source of no more than cosmetic concern to the affected person.INTRODUCTION - Recessive X-linked ichthyosis (XLI MIM #308100), also called steroid sulfatase (STS) deficiency, is an X-linked recessive ichthyosis caused by deletions or pathogenic variants in the STS gene, encoding the STS enzyme, that is generally considered nonsyndromic.
At times, the involvement is extensive and may be tatal in the newborn period.
The severity of inherited ichthyosis may vary considerably from family to family. In some of these inherited disorders, ichthyosis may be present in the context of a genetic syndrome with other systemic manifestations.'-^ There are a group of genetic ichthyoses, however, in which the cutaneous manifestations are the predominant, if not the only aspects clinic.illy recognized. A number of heritable forms of this skin condition have been recognized as well. Several exogenous drugs, such as triparanol, and preexisting medical conditions, such as hypothyroidism and Hodgkin's disease, have been associated with ichthyosis.
However, these conditions are clearly the result ot' a wide variety of environmental and genetic factors. They share as a common feature, thickening ot" the stratum corneum leading to a scaly appearance ot' the skin. Harbor-UCLA Medical Center, Torrance, Californij The ichthyoses are a disparate Kfoup of disorders of keratinization. International Journal of Dermatology Wiley įrom (he Divhion of Medical Genetics, Deparimenl ol Pediatrics. Autosomal recessive, autosomal dominant, and sex-linked pedigrees have been recognized, and these patterns of inheritance have [>een Often, however, the ichthyosis is a source of no more than cosmetic concern to the affected person. Review: X‐Linked Ichthyosis Review: X‐Linked Ichthyosisįrom (he Divhion of Medical Genetics, Deparimenl ol Pediatrics.
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