Oral and neurocutaneous phenotypes of familial tuberous sclerosis

Araujo, Leonardo de Jesus; Lima, Leonardo Santos; Alvarenga, Tassiana M. M.; Martelli‐Júnior, Hercílio; Coletta, Ricardo D.; Aquino, Sibele Nascimento de; Bonan, Paulo Rogério Ferreti

doi:10.1016/j.tripleo.2010.07.002

Cited by 14 publications

(16 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2,3,8 Other than TSC, the other major disorders in this group include types 1 and 2 neurofibromatosis, Our patient presented classical cutaneous findings, including multiple angiofibromas on his face. These hamartomatous lesions are preferentially located on the nasolabial folds, malar regions (where they usually present symmetrically, in the form of "butterfly wings") and the nose and chin.…”

Section: Discussionmentioning

confidence: 68%

“…These hamartomatous lesions are preferentially located on the nasolabial folds, malar regions (where they usually present symmetrically, in the form of "butterfly wings") and the nose and chin. [2][3][4]6,12 The differential diagnosis includes acne vulgaris and dermatosis papulosa nigra 3,13,14 ( Figures 1 and 2). Several cosmetic treatments have been described including curettage, surgical excision, cryosurgery, electrosurgery, dermabrasion, pulsed dye laser and CO 2 laser.…”

Section: Discussionmentioning

confidence: 99%

“…The main manifestations are angiomyolipomas, cysts and renal malignancies. [2][3][4]6 Renal angiomyolipoma is a benign tumor composed of three different types of tissue: fatty, smooth muscle and vascular. 17 Angiomyolipoma often occurs in association with tuberous sclerosis between the second and third decades of life in isolated form.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Among the reported findings, lesions of the skin, adnexa, central nervous system, heart, kidneys and other organs stand out. [1][2][3][4] The prevalence is estimated to be 1:6000 live births, 2,5 and two thirds of all cases do not have any familial history. 2,4 The phenotypic expression of TSC is highly variable and, in some cases, it may be difficult to establish a definitive clinical diagnosis.…”

Section: Tuberous Sclerosis Complex (Tsc) or Bourneville's Disease Imentioning

confidence: 99%

“…6 The presence of two major features, or one major and two minor features, is sufficient for a definitive diagnosis. [1][2][3][4] Over recent years, mutation analysis has become an additional diagnostic tool in cases of familial as well as sporadic TSC.…”

Section: Tuberous Sclerosis Complex (Tsc) or Bourneville's Disease Imentioning

confidence: 99%

See 4 more Smart Citations

Tuberous sclerosis complex diagnosed from oral lesions

et al. 2013

Self Cite

View full text Add to dashboard Cite

CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the right kidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling. RESUMO CONTEXTO:O complexo esclerose tuberosa é uma doença genética pertencente ao grupo das facomatoses, de herança autossômica dominante, caracterizada por lesões acometendo pele e anexos, além de tumores do sistema nervoso central e periférico, com presença de achados neurólogicos e psiquiátricos, podendo acometer coração, rins, olhos, dentes, mucosa oral e outros órgãos. RELATO DE CASO: Apresentamos o caso de um paciente do sexo masculino, 66 anos de idade, que apresentava diversos sinais dermatológicos, como máculas hipopigmentadas, lesões em confete, placas tipo shagreen, angiofibromas nas regiões cervical, nasolabial e dorsal, distrofias ungueais e fibromas nos dedos das mãos e pés. Embora o encefalograma não tenha mostrado alterações, a ressonância nuclear magnéti-ca apresentou imagem nodular com aspecto semelhante ao parênquima cerebral, medindo 1.2 x 1.0 cm e próxima ao forame de Monro, compatível com astrocitoma subependimário de células gigantes. Abordagem conservadora foi escolhida por meio de controle imaginológico da lesão por sete anos, com ausência de sintomas neurológicos ou processos expansivos. A ultrassonografia de abdômen total revelou massa medindo 4.6 x 3.4 cm, com áreas ecogênicas e heterogêneas, apresentando focos de calcificação no rim direito, com padrão semelhante ao de um angiomiolipoma. O paciente foi submetido a nefrectomia total, devido à presença de áreas de malignidade ao exam...

show abstract

Section: Discussionmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 99%