Korean Journal of Radiology

The Korean Society of Radiology (대한영상의학회)
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Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

  • Ozgur, Anil (Department of Radiology, Mersin University Faculty of Medicine) ;
  • Cabuk, Gonca (Department of Radiology, Mersin University Faculty of Medicine) ;
  • Arpaci, Rabia (Department of Pathology, Mersin University Faculty of Medicine) ;
  • Baz, Kiymet (Department of Dermatology, Mersin University Faculty of Medicine) ;
  • Katar, Demet (Department of Radiology, Mersin University Faculty of Medicine)
  • Received : 2013.06.10
  • Accepted : 2014.03.31
  • Published : 2014.07.01
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Abstract

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Keywords

References

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  2. Itin PH. Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies. Dermatology 2009;218:221-225 https://doi.org/10.1159/000174103
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  1. SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities vol.2, pp.None, 2018, https://doi.org/10.1200/po.18.00146
  2. Hamartome folliculaire basaloïde : étude anatomoclinique vol.146, pp.3, 2014, https://doi.org/10.1016/j.annder.2018.12.007
  3. Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature vol.32, pp.2, 2014, https://doi.org/10.5021/ad.2020.32.2.159