title: [The respiratory manifestations in the picture of phakomatosis].
abstract: After a short review of phakomatosis nosology, the paper deals with 3 clinical cases, out of which two of Recklinghausen neurofibromatosis and one of tuberous sclerosis (Bourneville's disease), all of them with pulmonary determinations, confirmed bioptically and histopathologically. A "florid" cutaneous syndrome (including all the variants of skin lesions) dating from childhood, subsequently accompanied by phenomena of psychical involution and behaviour troubles were present in two cases; retinal lesions were also associated in the third case. Visceral intrapulmonary determinations (i.e. diffuse interstitial fibrosis, and even bronchopulmonary neoplasm in one case) were registered in all cases, too. The diagnostic importance of investigating all apparatus, systems and organs which can be jointly involved in phakomatosis is emphasized. The importance of an inquiry regarding family history is also noticed. For the studied cases, the contribution of complementary (psycho-neurological, ophthalmological, orthopaedic a.s.o.) examinations--though quite valuable--took a back seat in comparison with the essential elements provided by the dermatological and histopathological examinations.
authors.affiliation: Clinica de pneumologie UMF, Bucureşti.
authors.forename: P
authors.initials: P
authors.lastname: Stoicescu
authors.forename: I D
authors.initials: ID
authors.lastname: Petrui
mesh_terms: D001706:Biopsy; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008171:Lung Diseases / Q000175:diagnosis*; D008175:Lung Neoplasms / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D011859:Radiography; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis*
vernacular_title: Manifestări respiratorii in cadrul facomatozelor.