Etiology and Pathogenesis > Hereditary Tumor Syndromes

Abstract

Lee TC, Sung ML, Chen JS

Department of Medicine, Pei-Kang Hospital, China Medical College, Taichung, Taiwan R.O.C.

Neurofibromatosis and tuberous sclerosis are phakomatous syndrome diseases. 
They are both inherited as autosomal dominant diseases. 
Neurofibromatosis type 1 and tuberous sclerosis very seldom occur together. 
We report a 16-year-old male who had characteristics of these two diseases. 
This patient had all the criteria for a definitive diagnosis of tuberous sclerosis such as: classical shagreen patches, periungual fibroma, retinal hamartomata, facial angiofibroma, renal angiomyolipomata, and subependymal glial nodules on computed tomography. 
He also had the three presumptive diagnostic criteria: cardiac rhabdomyoma, seizure history and first degree relatives with tuberous sclerosis. 
The patient had more than six cafe-au-lait spots, the greatest diameter of which exceeded 15 mm in diameter. 
Multiple neurofibromas, one plexiform neurofibroma, axillary freckling and optic gliomas were also found on his body. 
These criteria are sufficient for a diagnosis of neurofibromatosis type 1 to be made. 
The skin biopsies were also consistent with the disease. 
Apart from the patient's mother and younger sister, who had tuberous sclerosis, there was no other person with neurofibromatosis type 1 in his immediate family. 
We believe that tuberous sclerosis was inherited from his mother and that neurofibromatosis type 1 may have resulted from mutation.

PMID: 7735010 [PubMed - indexed for MEDLINE]