Tuberous sclerosis complex TSC is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys , heart , liver , eyes , lungs and skin. A combination of symptoms may include seizures , intellectual disability , developmental delay , behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes , TSC1 and TSC2 , which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many. The prevalence of the disease is estimated to be 7 to 12 in ,
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Desmoplastic fibroma of the jaw associated with tuberous sclerosis. Literature review and case report. Acosta Feria 1 , P. Carranza Carranza 3 , J. It is characterized by the presence of neurologic and dermatologic disorders and mental retardation. It can affect other organs and systems and produce orofacial manifestations.
Dental enamel defects are the most frequent intraoral lesion. Bone lesions rarely occur in the upper jaw. Desmoplastic fibroma is an infrequent, slow-growing, locally aggressive intraosseous fibrous tumor that rarely is associated with tuberous sclerosis. We report the clinical case of a year-old man with tuberous sclerosis and a jaw lesion diagnosed as desmoplastic fibroma. The diagnostic methods, clinical presentation, and treatment are discussed.
The classic TS triad is epilepsy, mental retardation, and facial angiofibromas, frequently in the form of butterfly wings. However, the triad is observed in less than one-third of patients. In incomplete or frustrated forms, the diagnosis may be overlooked, which is why it is important to suspect the disease in patients with epilepsy in addition to skin anomalies and progressive neurologic deterioration. The cause of death is generally status epilepticus, pneumonia, cachexia, or acute myocardial infarction.
Paucisymptomatic or incomplete forms of the disease exist that have a greater life expectancy. Less frequent manifestations are facial asymmetry, higharched palate, bifid uvula, cleft lip and cleft palate, diastemata and dental eruption anomalies. The patient was seen in our department for a radiopaque lesion of the jaw that was diagnosed as desmoplastic fibroma when excised. The main clinical, radiologic, evolution, and therapeutic features of the disease are discussed.
A year-old man was referred for a slow-growing tumor of the right lower parasymphyseal mandibular region of several years evolution. His medical history included tuberous sclerosis and kidney transplantation after nephrectomy for renal angiomyolipoma. The clinical examination disclosed a hard lesion adhered to the jaw, approximately 2 x 2 cm in diameter, with mild tenderness Fig. The skin of the lateral cervical region and nape exhibited multiple small, dark-colored excrescent lesions of fibrotic appearance Fig.
In the panoramic radiograph, increased bone density was observed in the parasymphyseal region of the jaw. CAT showed a chondroid bone excrescence and erosion of the right mandibular cortex in the parasymphyseal area without any soft-tissue component Fig. The radiographic differential diagnosis included: ameloblastoma, odontogenic myxoma, aneurysmal cyst, chondromyxoid fibroma, central hemangioma, and eosinophilic granuloma.
Under general anesthesia and via a cutaneous approach, a hard round mass with safety margin was removed from the jaw Fig. Cervical fibromas were removed by CO 2 laser in the same surgical act. The patient was discharged on day after the intervention. During follow-up in the outpatient clinic, he has not presented any sign or symptom of recurrence of the mandibular tumor in three years Fig. Histopathologic study of the mandibular bone mass removed disclosed scant fibroblasts in a stroma containing a large amount of hyalinized collagen.
Bony spicules without an osteoid border indicative of tumoral bone infiltration were observed inside the mass. The lesion contained spindle cells with long, uniform nuclei, scant mitoses and no atypia, suggesting a benign lesion.
The study concluded with a diagnosis of desmoplastic fibroma Fig. TS is a rare congenital phacomatous disease characterized by a high prevalence of multiple orofacial, neurologic, and dermatologic hamartomatous lesions. Diagnosis of the disease in children can be difficult due to the existence of so-called "frustrated" disease forms that do not display the classic triad described by Vogt.
The presence of the pathognomonic skin lesions can lead to an early diagnosis and has prognostic interest. Skin lesions may not be present at birth. Renal disease is the major cause of morbidity and mortality in patients with tuberous sclerosis 7,8,12 and consists of renal angiomyolipomas and cysts and chronic renal failure.
The diagnosis is generally made in childhood when the first neurologic symptoms appear. EEG is essential for characterizing and monitoring epileptic seizures. Above all, the appearance of renal angiomyolipomas that produce retroperitoneal hemorrhage and progressive renal failure aggravates the prognosis, as the main cause of death in these patients.
Few published studies have addressed the oral and maxillofacial manifestations of TS. They are diagnosed between 4 and 10 years of age or in puberty. They include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and cleft palate, macroglossia, high arched palate, tooth enamel abnormalities, or poor dental hygiene due to delayed dental eruption. Gingival hyperplasia may occur as a result of anticonvulsant therapy.
Both temporary and permanent teeth are affected. Radiopaque lesions identified as fibrous osteitis are observed in the maxillary and mandibular bones. Other lesions described are epithelial calcifying odontogenic tumor, desmoplastic fibroma, central odontogenic fibroma, and odontogenic myxoma, 4,10,11 Damm et al.
It is of unknown etiology, but its origin has been related to trauma, endocrine disorders, and genetic factors. It was first described by Jaffe in Griffith was the first to describe it in the jaw, in In , Said-Al-Naief et al.
Miyamoto et al. Although the most frequent location is the maxilla, it can appear in other bones, such as the femur, pelvis, radius, or tibia. The association of maxillary desmoplastic fibroma and TS is even more uncommon. Desmoplastic fibroma may be asymptomatic in some cases, but it usually occurs as a firm, slow-growing mass that generally causes pain and inflammation.
Other symptoms that can appear include dental loss, trismus, or restricted mouth opening, malocclusion, dysesthesia, tumoral hemorrhage or infection, infection, recurrent sinusitis, and exophthalmos. Radiologically, it usually manifests as a well defined, radiolucent or radiopaque unilocular or multilocular lesion containing connective tissue trabeculae. We can often observe thinning or interruption of the bone cortex with soft tissue involvement.
Histologically, desmoplastic fibroma is constituted by fibroblasts and abundant collagen matrix. Despite its benign nature, it may contain spicules of eroded laminar bone because its growth is more infiltrative than expansive. The histopathologic differential diagnosis must be made fundamentally with fibrous dysplasia bone formation, osteoid rim, and fibrovascular stroma present , low-grade fibrosarcoma nuclear pleomorphism with abundant mitoses and atypias present , and low-grade osteosarcoma osteoformation and an osteoblastic rim.
The treatment of choice of desmoplastic fibroma is still debated. Jaffe recommends segmental resection as the treatment of choice when the lesion shows signs of aggressiveness and soft-tissue involvement.
Curettage of the lesion is accepted as the first treatment, although it has a higher recurrence rate. Eisen and Butler 1,3 recommend conservative treatment of facial lesions to avoid deformation, but tumor resection if soft-tissue infiltration by the tumor has occurred.
Due to the recurrence potential of desmoplastic fibroma, the recommended postoperative follow-up period is three years. The radiographic differential diagnosis includes lesions such as ameloblastoma, odontogenic myxoma, epithelial calcifying odontogenic tumor, aneurysmal cyst, chondromyxoid fibroma, central hemangioma, eosinophilic granuloma, and sarcoma. Epithelial calcifying odontogenic tumor is one of the odontogenic tumors considered benign. It is more common in men and in the jaw it shows predilection for the premolar and molar region.
Its growth is expansive and relatively slow. Treatment consists of enucleation and aggressive curettage of the residual cavity, although recurrence has been observed. It is most frequently located in the jaw, particularly in the mandibular angle or ascendant ramus. Surgery is the treatment of choice. It is generally located anterior to the first molar. Radiographically, the lesion is well defined, has sclerotic margins, and may be unilocular or multilocular.
It usually does not recur after exeresis. Desmoplastic fibroma is a rare, locally aggressive, slowgrowing fibrous bone tumor that rarely is associated with TS.
The diagnosis is based on the clinical manifestations and radiographic study, where it is observed as a relatively well defined, radiopaque, and unilocular or multilocular lesion. Diagnostic confirmation is by histopathologic study of the excised tumor. The most accepted treatment for desmoplastic fibroma of the jaw is resection of the tumor with ample safety margins to prevent recurrence. In our case, the treatment was definitive. Desmoplastic fibroma-like tumor of maxillofacial region associated with tuberous sclerosis.
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Oral health management implications in patients with tuberous sclerosis. Tuberous sclerosis: clinicopathologic features and review of the literature. J Craniomaxilofac Surg ; Orofacial manifestations in tuberous sclerosis. Oral Surg ; Intraosseous fibrous lesions of the jaws, a manifestations of tuberous sclerosis.
Desmoplastic fibroma of the jaw associated with tuberous sclerosis. Literature review and case report. Acosta Feria 1 , P. Carranza Carranza 3 , J. Tuberous sclerosis is a congenital anomaly of embryonic development with an autosomal dominant inheritance. It is characterized by the presence of neurologic and dermatologic disorders and mental retardation.
Esclerosis tuberosa: (enfermedad de Pringle-Bourneville)
Desmoplastic fibroma of the jaw associated with tuberous sclerosis. Literature review and case report. Acosta Feria 1 , P. Carranza Carranza 3 , J. It is characterized by the presence of neurologic and dermatologic disorders and mental retardation.