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The face of Job

W G Borges1, T Hensley, J C Carey

  • 1Department of Pathology, University of Utah School of Medicine, Salt Lake City 84132, USA.

The Journal of Pediatrics
|August 26, 1998
PubMed
Summary

Facial analysis of Job syndrome patients revealed distinct features like a prominent forehead and wider nose. These consistent characteristics suggest a recognizable facial phenotype for this rare genetic disorder.

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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Job syndrome, also known as autosomal dominant hyper IgE syndrome, is a rare primary immunodeficiency.
  • Facial dysmorphology has been anecdotally reported in Job syndrome but not systematically evaluated.

Purpose of the Study:

  • To identify and characterize consistent facial features in patients with Job syndrome.
  • To determine if a recognizable facial phenotype exists for Job syndrome.

Main Methods:

  • Clinical evaluation of facial morphology in 9 patients from 7 kindreds with confirmed Job syndrome.
  • Anthropometric measurements of specific facial parameters, including alar width and outer canthal distance.

Main Results:

  • Consistent facial features observed: prominent forehead, deep-set eyes, increased nasal width, full lower lip, and thickened nose/ears.
  • Significantly increased mean alar width (Z score = +3.9) and outer canthal distance (Z score = +2.2).

Conclusions:

  • A distinct and recognizable facial phenotype is associated with Job syndrome.
  • These findings aid in the clinical recognition and diagnosis of Job syndrome.

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