M Vajie, S Sadollah, A Fekri
osteosarcoma, pulmonary metastases, tuberous sclerosis complex
M Vajie, S Sadollah, A Fekri. Osteosarcoma In A Patient With Tuberous Sclerosis. The Internet Journal of Dermatology. 2005 Volume 3 Number 2.
The tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by benign para nasal angiofibroma and benign tumors of the periungual area ,brain, heart, that can be associated with seizures, mental retardation, and many benign tumors of kidney. Malignant tumors also can occur in patients with tuberous sclerosis .TSC is now known to be associated with benign tumor, but rarely malignant tumor. We report a case of TSC with osteosarcoma and death due to pulmonary metastases, and a short review of recent literatures regarding the conditions.
Tuberous sclerosis complex is a hamartomatous disease that affects the skin and internal organs. Cutaneous manifestations include angiofibromas, fibrous plaques, collagenomas (shagreen patches), periungual fibromas (Koenen tumors), gingival fibromas, dental enamel pits, hypopigmented macules (ash-leaf and confetti), and cafè- au-lait macules(1).Tuberous sclerosis is not a rare disease, but It's
association with osteosarcoma has not been reported in medical literature . This complex is thought to have inhibitory effects on cell growth, cell proliferation, intracellular trafficking, cell adhesion, and cell migration. )1,2,3). The TSC is an autosomal dominant disorder characterized by benign facial angiofibroma and benign tumors of the periungual area, brain, heart, that are associated with seizures, mental retardation, and many benign tumors of kidney. The disease is now accepted as a complex syndrome with multiple organ involvement and the patient's clinical symptoms/signs may lead us to investigate a certain system (4).
A 15 year old girl, has been admitted first in the surgery ward of Kerman Darman hospital in Iran with chief complain of a mass on her left shin at 8 months ago. Radiologic & pathologic investigation has been done on this mass confirmed impression of tibial osteogenic sarcoma. Amputation of left thigh has been done and following up of him after 8 sessions of chemotherapy showed that her chief complain changed to left shoulder pain with mild dyspnea and second hospital admission was done. Chest x-ray showed a dense radiological pulmonary mass, most probably metastasis to the lung. In broncoscopic examination and taking a biopsy metastatic osteosarcoma approved and totally excision of pulmonary mass was done and in pathological report of cut section pulmonary metastasis of osteosarcoma has been approved (Fig. 1-2-3). Before she has been discharged of hospital a dermatological consultation for therapy of acne like lesion has been done, and in examination centro-facial due mono morph verrucos lesions specially on para nasal area that has been observed that they has been appeared when she was 7 years old. In general examination, low intelligence in association history of epilepsy, with multiple dark red papules has been observed in her centro facial area, a few ash leaf hypo pigmented patches are seen over the remain leg and on her back. One of nasolabial papule has been excised and pathological report of these lesion was compatible with an angiofibroma (association of osteogenic carcinoma and tuberous sclerosis complex in a case). She has being followed till on the 5th post-operative day
Overlap of osteosarcoma in a case with tuberous sclerosis may be usually a consensus association of these disorders, but we can think about their correlation of them, because of increasing prevalence of malignancies such as astrocytoma in patients with tuberous sclerosis has been reported. Our case is a missed one of tuberous sclerosis that has been admitted in hospital due to her major progressive problem with metastases to the long. TSC is a genetic disorder with hamartomatous in many organs, in particular the skin, brain, eye, kidney and heart(1,2). Classically skin lesions are not invariably seen in association with epilepsy and mental retardation (7,8,9). Cystic lesions of phalanges and long bones are not uncommon in TSC. Our patient is the first documented case that being report as a transformation of tibial osteosarcoma in a case with tuberous sclerosis complex .She has been expired due to pulmonary metastasis of osteosarcoma. An extensive review of medical literature by Berger M.S. in Netherlands, Gutmann-DH in Spain and Xiao-GH et al in 1997 has shown that pediatric brain tumors occur with a frequency of 24 to 27 cases/year in a cohort study of 1 million children and the lesion can be present in the cases of tuberous sclerosis (7,9,10,11). More literature review showed