title: The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
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.
  
  
  CONCLUSIONS
  The small sample size, limited clinical information, and assessment by nondermatologists in a subset of cases may have influenced the results.
  
  
  CONCLUSIONS
  STS deletions may cause a milder skin phenotype than the typical presentation of XLI.
authors: Department of Dermatology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address: hand.jennifer@mayo.edu.
authors: Jennifer L
authors: JL
authors: Hand
authors: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
authors: Cassandra K
authors: CK
authors: Runke
authors: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
authors: Jennelle C
authors: JC
authors: Hodge
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D041321:Chromosomes, Human, X / Q000235:genetics* / Q000648:ultrastructure; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D033162:Incidental Findings; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D010641:Phenotype; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology*; D043266:Steryl-Sulfatase / Q000235:genetics*
chemical_list: D043266:Steryl-Sulfatase
keywords: X-linked ichthyosis; atopic dermatitis; chromosomal microarray; contiguous gene syndrome; eczema; steroid sulfatase deficiency; steroid sulfatase gene