Recessive X-linked ichthyosis
- Jennifer L Hand, MD
Jennifer L Hand, MD
- Associate Professor of Dermatology, Assistant Professor of Medical Genetics and Pediatrics
- Mayo Clinic, Rochester, MN
Recessive X-linked ichthyosis (XLI, MIM #308100), also called steroid sulfatase deficiency, is an X-linked recessive, nonsyndromic ichthyosis caused by deletions or mutations in the STS gene encoding the steroid sulfatase enzyme . 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.
The disease presents at birth or in early infancy with dry skin and a tendency to form scales on the extremities and trunk. Along with ichthyosis vulgaris, the phenotype of X-linked ichthyosis tends to be milder than most other hereditary forms of ichthyosis.
This topic will review the clinical features, diagnosis, and management of XLI. An overview of syndromic and nonsyndromic ichthyoses (table 1) is presented separately. (See "Overview of the inherited ichthyoses".)
Recessive XLI is the second most frequent ichthyosis after ichthyosis vulgaris. It is reported worldwide in all ethnic groups and affects almost exclusively males. XLI incidence ranges from 1 in 1300 to 1 in 9000 male births [2-5].
The majority of cases of recessive XLI are caused by complete deletion of the steroid sulfatase gene (STS) on chromosome Xp22.3 [6,7]. Other cases result from partial deletion or point mutations of STS [8,9]. Deletions or mutations of the STS gene cause complete loss of steroid sulfatase enzyme activity. Affected males inherit the X-chromosome bearing a mutated gene from their asymptomatic carrier mothers, although rare sporadic cases have been reported [10,11]. In 5 to 8 percent of cases, the deletion includes genes adjacent to STS, resulting in a number of contiguous gene syndromes [12,13]. (See 'Contiguous gene syndromes' below.)
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- CLINICAL MANIFESTATIONS
- Cutaneous features
- Extracutaneous features
- - Ocular
- - Genitourinary
- - Cognitive and behavioral
- Contiguous gene syndromes
- PERINATAL MANIFESTATIONS OF STEROID SULFATASE DEFICIENCY
- Clinical suspicion
- Biochemical diagnosis
- Molecular diagnosis
- Prenatal diagnosis
- Carrier detection
- DIFFERENTIAL DIAGNOSIS
- General considerations
- Control of scaling and dryness
- - Infants and young children
- - Older children and adults
- - Patients with severe XLI
- Management of extracutaneous manifestations
- Genetic counseling
- PROGNOSIS AND FOLLOW-UP
- SUMMARY AND RECOMMENDATIONS