[Tuberous sclerosis in childhood].
Tuberous sclerosis is an autosomal dominant disease that results from mutations in one of two tumor suppressor genes, TSC1 and TSC2. We are reporting a two-year-old girl who presented with hypopigmented macules (ash leaf) in the skin and small erythematous facial papules (angiofibromas). Her mother was known to have tuberous sclerosis that was diagnosed at age seven. Although the signs of tuberous sclerosis were specifically looked for in this patient because of her mother, subtle angiofibromas in a young child can be easily missed.
Pires
Catarina Fernandes
CF
Anunciação
Genise Mayara Alves Da Silva
GM
De Sousa
Wecilândia Lopes
WL
Santos
Bertha Maria De Moura
BM
Anunciação
Fernando Antonio Costa
FA
Pires
Anália Fernandes
AF
Pires
Lúcio Fernandes
LF
D018322:Angiofibroma / Q000209:etiology*; D002675:Child, Preschool; D005153:Facial Neoplasms / Q000209:etiology*; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D017496:Hypopigmentation / Q000209:etiology; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology