The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray

Jennifer L. Hand, Cassandra K. Runke, Jennelle C. Hodge

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Background Steroid sulfatase (STS) gene disruption causes X-linked ichthyosis (XLI). Interrogating the entire genome through chromosomal microarray (CMA), a test primarily used to screen patients with noncutaneous congenital anomalies, may detect STS deletions incidentally. Objective We sought to determine the variability of skin features associated with STS deletions diagnosed through CMA and to compare these findings with XLI cases reported in the literature and recognized in a dermatology clinic. Methods Male patients with an STS deletion were identified from 23,172 consecutive postnatal blood samples tested with CMA at Mayo Clinic. A comparison group of male patients with biochemically confirmed XLI was ascertained in the dermatology clinic. The available patient medical records, skin histopathology, and photographs were evaluated and a literature search of patients with XLI was conducted. Results Children whose diagnosis was made incidentally through CMA had milder skin phenotypes, including dryness or eczema, or both, and did not manifest the polygonal or "dirty" scale described as typical of XLI in the literature. Limitations The small sample size, limited clinical information, and assessment by nondermatologists in a subset of cases may have influenced the results. Conclusion STS deletions may cause a milder skin phenotype than the typical presentation of XLI.

Original languageEnglish (US)
Pages (from-to)617-627
Number of pages11
JournalJournal of the American Academy of Dermatology
Volume72
Issue number4
DOIs
StatePublished - Apr 1 2015

Fingerprint

X-Linked Ichthyosis
Steryl-Sulfatase
Phenotype
Skin
Dermatology
Eczema
Sample Size
Medical Records
Genome

Keywords

  • chromosomal microarray
  • contiguous gene syndrome
  • eczema
  • Key words atopic dermatitis
  • steroid sulfatase deficiency
  • steroid sulfatase gene
  • X-linked ichthyosis

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. / Hand, Jennifer L.; Runke, Cassandra K.; Hodge, Jennelle C.

In: Journal of the American Academy of Dermatology, Vol. 72, No. 4, 01.04.2015, p. 617-627.

Research output: Contribution to journalArticle

Hand, Jennifer L. ; Runke, Cassandra K. ; Hodge, Jennelle C. / The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. In: Journal of the American Academy of Dermatology. 2015 ; Vol. 72, No. 4. pp. 617-627.
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