Oral and neurocutaneous phenotypes of familial tuberous sclerosis.
OBJECTIVE
The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination.


METHODS
To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair.


RESULTS
The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each.


CONCLUSIONS
We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment.
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil. leo.odonto@ig.com.br
Leonardo de Jesus
Lde J
Araujo
Leonardo Santos
LS
Lima
Tassiana Mota Mourão
TM
Alvarenga
Hercílio
H
Martelli-Júnior
Ricardo Della
RD
Coletta
Sibele Nascimento
SN
de Aquino
Paulo Rogério Ferreti
PR
Bonan
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018322:Angiofibroma / Q000235:genetics* / Q000473:pathology; D002648:Child; D003743:Dental Enamel / Q000473:pathology*; D005260:Female; D005887:Gingival Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D040582:Inheritance Patterns; D008048:Lip Neoplasms / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009423:Nervous System Neoplasms / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult