Hornstein-Knickenberg and Birt-Hogg-Dube syndrome. Report of a case with spontaneous pneumothorax und aplasia of the left carotid artery

A 36-year-old man presented with multiple skin-colored papules on his face, neck and back of several years duration. His father, sister and probably h is grandfather suffered from similar skin lesions. The histological examina tion revealed fibrofolliculomas in all three cases. At the age of 33 years the patient developed a spontaneous pneumothorax, and one year later a suba rachnoidal hemorrhage due to aplasia of the left carotid artery. His grandf ather had died from metastatic rectal carcinoma. A diagnosis of Hornstein-K nickenberg-/ Birt-Hogg-Dube syndrome was made, which is characterized by fi brofolliculomas and colon adenomas. Our familial observation speaks in favo r of autosomal dominant transmission of the Hornstein-Knickenberg-/ Birt-Ho gg-Dube syndrome. Apart from the skin several other organs may be involved, including the kidneys, urogenital tract, eyes and endocrine system. By thi s report we wish to draw intention to the typical skin lesions which can be the marker for neoplasia and other characteristic associated findings.