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Tägliche und wöchentliche Aufträge im Detail;. In , Happle and Tinschert 1 described a case with unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with extracutaneous manifestations such as short leg, polydactyly and hypoplastic teeth. The authors also reviewed the literature and found eight similar cases under various definitions with additional findings of the bones, teeth and brain.

They stated this disease as a distinct syndrome which has been confused with Gorlin syndrome in the past. Shortly after this article, Itin 2 reported a new case with similar features. He described the disease as 'segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies' and proposed the name 'Happle-Tinschert syndrome'. Recently, a patient with microphtalmia and hemimegalencephaly was presented by Boccaletti et al.

Herein we present a case of Happle-Tinschert syndrome with hemimegalencephaly and discuss this neurocutaneous disorder with particular emphasis on imaging findings. This is the first report of Happle-Tinschert syndrome in the radiology literature and the first case with abnormal gyral pattern. A 9-year-old boy presented with a discrepant short left leg and ipsilateral skin lesions to our institution. His family history was unremarkable. The skin lesions were present since his age of 3 years.

The dermatological examination revealed multiple whitish papules on the left lower and the upper eyelids. Skin-coloured or brownish papules were present segmentally located on the left side of the presternal area and on the left shoulder with a localized hypertrichosis Fig. Similar papular lesions were also detected over the left thigh in a systematized pattern following the lines of Blaschko. An epidermal nevus syndrome was suspected based on the unilateral manifestations of the clinical findings.

The orthoroentgenogram revealed a discrepant shortening by 14 mm of the left lower extremity. A cerebral magnetic resonance imaging MRI was performed to investigate a possible neurocutaneous syndrome although the subject had no neurological symptoms such as epilepsia or mental retardation. Hemimegalencephaly with polymicrogyria in 9-year-old boy with Happle-Tinschert syndrome.

Segmentally arranged skin-coloured or brownish papules on left side of presternal area with localized hypertrichosis. Axial T2-weighted image shows mildly enlarged left hemisphere with moderate dilation of ipsilateral ventricle.

Axial T2-weighted image shows polymicrogyria arrow in left frontal lobe. This MRI demonstrated a mild enlargement of the left hemisphere with minimal displacement of the midline and moderate enlargement of the ipsilateral ventricle especially in the frontal horn Fig.

The frontal horn of the left lateral ventricle was anteriorly and superiorly extending. An abnormal gyral pattern with slightly flat and thick cortex consistent with coarse polymicrogyria was also present in the left frontal lobe Fig.

No signal abnormality was detected in the white matter. Bilateral small temporal arachnoid cysts were observed. Extraparenchymal abnormalities such as olfactory nerve enlargement or abnormal dilated venous channels were not seen.

No asymmetric enlargement was noted in the cerebellum or in the brainstem. The cerebellar folia were normal. The histopathological examination of a papule on the left presternal area showed features consistent with a basaloid follicular hamartoma Fig. Finally, Happle-Tinschert syndrome was diagnosis based on clinical, histopathological and imaging findings.

Happle-Tinschert syndrome is a recently defined multisystem disease characterized by unilateral cutaneous and extracutaneous manifestations including skeletal, dental and cerebral anomalies 1.

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