The spectrum of radiological findings in H syndrome

Clin Imaging. 2013 Mar-Apr;37(2):313-9. doi: 10.1016/j.clinimag.2012.05.015. Epub 2012 Jul 15.

Abstract

Purpose: To describe the spectrum of radiological findings in 12 patients with H syndrome.

Patients and methods: Various radiological examinations of 12 patients (M=9, F=3) with H syndrome were reviewed.

Results: Symmetrical thickening of the skin of the subcutaneous tissue at the lower half of the body (n=9, 75%), with retracted micropenis in males (n=5, 55%). Groin varices (n=5, 42%) and lymphadenopathy (n=5, 42%) were observed in severe cases. Severe symmetrical flexion deformities of the fingers (n=7, 58%) were relatively common.

Conclusion: Skin thickening with subcutaneous fat infiltration and deformities of the hands and feet are typical for H syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Contracture / diagnosis*
  • Contracture / genetics
  • Contracture / pathology
  • Female
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology
  • Histiocytosis / diagnosis*
  • Histiocytosis / genetics
  • Histiocytosis / pathology
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Retrospective Studies
  • Tomography, X-Ray Computed / methods
  • Ultrasonography / methods

Supplementary concepts

  • Histiocytosis with joint contractures and sensorineural deafness