Nevoid Basal Cell Carcinoma Syndrome and Fetal Rhabdomyoma: A Case Study

Abstract

Feta l rhabdotnyoma is not generally considered part of nevoid basal cell carcinoma syn drome. How ever. a review ofthe literature revealedfive patients with this sy ndrome 11' 170 also had feta l rhabdomy omas in various locations. We report thefirstpatient with nevoid basal cell carcinotna syndrotne and afetal rhabdoiny oma ofthe tongu e. We reconunend that embryonal rhabdontyosarcoma be ni/ed out to avoid ove rly aggressive treatment ofthese patients .

Naevoid Basal Cell Carcinoma Syndrome in a 22-month-old Child Presenting with Multiple Basal Cell Carcinomas and a Fetal Rhabdomyoma

“…Foetal rhabdomyoma is an extremely uncommon benign neoplasm with skeletal muscle differentiation that has already been reported in association with NBCCS (14). Quite recently a thoracic foetal rhabdomyoma has been reported in association with the mutation c.585-1G>a (15), as in our case.…”

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

“…CRs are more common in individuals with mutations in TSC2 than TSC1, are often multifocal, may appear de novo, and can show regrowth during adolescence (Jozwiak et al 2006). CRs can also be seen infrequently in individuals with NBCCS (Watson et al 2004).…”

Mediastinal fetal rhabdomyoma in nevoid basal cell carcinoma syndrome: a case report and review of the literature

“…Together with the current case presented here, there have been seven reported cases of FR in NBS patients, and all have been FR of either classic or intermediate type. However, to date, no adult rhabdomyoma or rhabdomyosarcoma has been found in association with NBS [5,[9][10][11][12][13][14]. This suggests that when a tumor with definitive evidence of skeletal muscle differentiation appears in NBS, it is likely to be a benign FR.…”

“…This suggests that when a tumor with definitive evidence of skeletal muscle differentiation appears in NBS, it is likely to be a benign FR. Secondly, in FRs occurring in the context of NBS, only two of the seven have been located in the head and neck region [9,14], which is notably different from FR without NBS.…”