title: [Classic form of Bourneville-Pringle disease in a daughter and appearance of hypopigmented macules of her father's skin].
abstract: Tuberous sclerosis (Bourneville-Pringle disease) is an genetic autosomal dominant disease, but in over 50% cases there are new spontaneous mutations. During this disease visceral hamartomas do tend to develop in various tissues. Earlier it was considered that in order to set a diagnosis the knowledge of Vogt's triade was required (angiofibroma, epilepsia, mental retardation). But new not typical forms occur, that do not contain all the above mentioned three elements. The phenomenon is connected with the appearance of a new mutations of the gene or with a variable gene penetrance. In these study case we present a 21-year old patient who shows the fully blown symptoms of Vogt's triad and her father who only has hypopigmented macules on his back.
authors.affiliation: Klinika Chorób Skórnych i Wenerycznych PAM w Szczecinie.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Farfał
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Marchelek
authors.forename: Jacek
authors.initials: J
authors.lastname: Rózański
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Ciechanowski
authors.forename: Romuald
authors.initials: R
authors.lastname: Maleszka
mesh_terms: D000328:Adult; D018206:Angiolipoma / Q000150:complications / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000235:genetics*; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011506:Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D012867:Skin; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D011506:Proteins; D012097:Repressor Proteins; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins