Korean J Radiol.  2014 Aug;15(4):534-537. 10.3348/kjr.2014.15.4.534.

Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

• Ozgur A
• Cabuk G
• Arpaci R
• Baz K
• Katar D

• KMID: 1731059
• DOI: http://doi.org/10.3348/kjr.2014.15.4.534

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.

Keyword

Basaloid follicular hamartoma; Happle-Tinschert syndrome; Hemimegalencephaly; Polymicrogyria

MeSH Terms

Basal Cell Nevus Syndrome/diagnosis
Child
Dental Enamel/abnormalities
*Frontal Lobe/pathology
Hamartoma/*diagnosis/pathology
Humans
Leg Length Inequality/*diagnosis
Magnetic Resonance Imaging
Male
Malformations of Cortical Development/*diagnosis
Skin Diseases/*diagnosis/pathology
Syndrome

Figure

• 

  Fig. 1 Hemimegalencephaly with polymicrogyria in 9-year-old boy with Happle-Tinschert syndrome. A. Segmentally arranged skin-coloured or brownish papules on left side of presternal area with localized hypertrichosis. B. Axial T2-weighted image shows mildly enlarged left hemisphere with moderate dilation of ipsilateral ventricle. C. Axial T2-weighted image shows polymicrogyria (arrow) in left frontal lobe. D. Anastomosing strands of basaloid cells with peripheral palisading in papillary dermis (hematoxylin and eosin, × 20).

Reference

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