Gorlin-Goltz-Syndrom mit assoziiertem Hypophysenadenom

Zusammenfassung

Wir berichten über eine 32-jährige Patientin mit seit ca. 10 Jahren entstandenen multiplen, klinisch atypischen, z. T. zystischen Basalzellkarzinomen des Gesichts, Glaukom, kantiger Schädelform mit verbreitertem Nasenrücken und Hypertelorismus. Kieferzysten, Rippenanomalien, palmoplantare Hyperkeratosen oder Gruben und andere bekannte assoziierte Symptome des Syndroms fanden sich nicht. Dagegen wurde in unserem Fall zusätzlich ein Hypophysenadenom ohne vermehrte Somatotropin-Produktion nachgewiesen.

Abstract

We report on a 32-year-old female patient with multiple clinically unusual in part cystic basal cell carcinomas of her face developing since approximately 10 years, glaucoma, square shaped scull with broad back of the nose and hypertelorism. Mandibular cysts, abnormal ribs and palmoplantar hyperkeratoses or pits and other known associated symptoms of the syndrome were not detected. Our case had an adenoma of the pituitary gland without increased production of somatotropin hormone.

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