Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

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.

Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

“…Happle-Tinschert syndrome was first proposed in 2008 3 , and it manifests as unilateral multiple BFHs, atrophoderma, and plantar pits with dental and osseous anomalies [4][5][6][7][8] . The clinical features of Happle-Tinschert syndrome are characterized by the segmentally arranged BFHs and the presence of three systemic features: ipsilateral osseous, dental, and cerebral abnormalities (Table 1).…”

“…In cutaneous manifestations, all patients presented with unilateral, segmentally arranged BFHs, and about half of them presented with comedone-like lesions, atrophoderma, hair abnormalities, and hyper/hypopigmentation [3][4][5][6][7][8][9][10][11][12][13][14][15][16] . Osseous manifestations, which occurred in 11 cases, were the sec-ond most common, with ipsilateral overgrowth of bones, polydactyly, syndactyly, saddle nose, and scoliosis being predominant [3][4][5][6][7]9,10,[12][13][14]16 . The following dental manifestations occurred in 6 cases: adontia, hypodontia, hypo-plastic teeth, enamel defects, ameloblastoma, and crowded teeth [3][4][5][6]13,15 .…”

“…The following dental manifestations occurred in 6 cases: adontia, hypodontia, hypo-plastic teeth, enamel defects, ameloblastoma, and crowded teeth [3][4][5][6]13,15 . Cerebral manifestations occurred in 5 cases 4,7,8,10,13 . Other accompanying anomalies are listed in Table 2.…”