Browse > Article
http://dx.doi.org/10.3348/kjr.2014.15.4.534

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)
Publication Information
Korean Journal of Radiology / v.15, no.4, 2014 , pp. 534-537 More about this Journal
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
Basaloid follicular hamartoma; Happle-Tinschert syndrome; Hemimegalencephaly; Polymicrogyria;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Vezina G, Barkovich AJ. The phakomatoses. In: Barkovich AJ, Raybaud C, eds. Pediatric neuroimaging, 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2012:619-625
2 Happle R, Tinschert S. Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Derm Venereol 2008;88:382-387
3 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   DOI
4 Boccaletti V, Accorsi P, Pinelli L, Ungari M, Giordano L, Neri I, et al. Congenital systematized basaloid follicular hamartoma with microphthalmia and hemimegalencephaly. Pediatr Dermatol 2011;28:555-560   DOI
5 Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002;17:373-384; discussion 384   DOI   ScienceOn
6 Barkovich AJ. MRI analysis of sulcation morphology in polymicrogyria. Epilepsia 2010;51 Suppl 1:17-22
7 Burck U, Held KR. Unilateral skin lesions, cataracts, optic glioma and retardation--a variant of the epidermal nevus syndrome? Dermatologica 1982;165:208-214   DOI