title: [Pheochromocytoma as dominant manifestation of v. Hippel-Lindau syndrome].
abstract: A diagnosis of von Hippel-Lindau syndrome was made in two families originating from the same part of the Black Forest but apparently unrelated. Nine affected persons (seven males and two females) had a total of 17 tumours: retinal angioma (4), haemangioblastoma of the CNS (1), and phaeochromocytoma (12). Three of the affected persons and eight of the tumours (six phaeochromocytomas, two retinal angiomas) were diagnosed by family screening. Phaeochromocytoma was diagnosed in eight persons; in four it was the only symptomatic lesion. After extensive diagnostic tests the phaeochromocytoma was the sole tumour in four. Despite severe symptoms the diagnosis of von Hippel-Lindau syndrome had not been made prior to the screening examinations because either the common aetiology of the tumour was not known or there was insufficient exchange of information between the two families.--It is recommended that in each case of phaeochromocytoma von Hippel-Lindau syndrome should be excluded so that lesions can be discovered early in other organs and in other affected family members. If the syndrome is present, annual examinations are indicated because of asynchronous and multi-focal tumour growth.
authors.affiliation: Abteilung Innere Medizin IV, Universität Freiburg.
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
authors.forename: V
authors.initials: V
authors.lastname: Hofmann
authors.forename: I
authors.initials: I
authors.lastname: Zäuner
authors.forename: G
authors.initials: G
authors.lastname: Sigmund
authors.forename: U
authors.initials: U
authors.lastname: Blum
authors.forename: C
authors.initials: C
authors.lastname: Schümichen
authors.forename: D
authors.initials: D
authors.lastname: Schmidt
authors.forename: G
authors.initials: G
authors.lastname: Kirste
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology*; D000328:Adult; D000368:Aged; D016543:Central Nervous System Neoplasms / Q000209:etiology; D002648:Child; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000209:etiology; D006391:Hemangioma / Q000209:etiology; D006394:Hemangiosarcoma / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000209:etiology*; D011877:Radionuclide Imaging; D012164:Retinal Diseases / Q000209:etiology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
vernacular_title: Phäochromozytom als dominierende Manifestation des v. Hippel-Lindau-Syndroms.