Tuberous Sclerosis, A Neurocutaneous Syndrome

Abstract

Tuberous sclerosis is a rare disease of protean manifestations, involving primarily the skin and nervous system. It is one of the congenital ectodermoses (neurocutaneous syndromes), among which are von Recklinghausen's neurofibromatosis, angiomatosis cerebri, and von Hippel-Lindau's disease. As this group has a common origin in the ectoblast, it is not unusual to find some overlapping of these entities. The following case is reported to show the occurrence of skin and osseous lesions such as are found in neurofibromatosis in a case of tuberous sclerosis. Case Report O. L. L., a 38-year-old white veteran, entered the hospital in February 1949 for repair of a left inguinal hernia. Due to a history of chronic sinusitis, an x-ray study of the sinuses was undertaken. The unusual appearance of the cranial vault on these films led to further studies. The patient had only meager recollections of his childhood, and the family history was not significant. He had not entered school until he was eight years old, because up to that age only his mother could understand his speech. He left school at the age of seventeen without completing the eighth grade. For many years he had suffered from sinusitis and had undergone various operations on the nasal septum and sinuses. Between 1929 and 1932 he had experienced repeated febrile episodes of unknown origin, lasting two or three days, with temperatures ranging up to 104°. During the war the patient had served in Africa, Corsica, and Italy. While in Italy he had been hospitalized for one month because of recurrent dizzy spells, which responded to rest. In 1947 he had a sudden profuse hemorrhage per rectum. Roentgen studies at another hospital had shown multiple polyps, and a total colectomy was done. Several polyps were found to have undergone malignant change. The patient was married and had a two-year-old child, apparently normal. On physical examination the height and weight were found to be normal. The head did not appear unusual on cursory examination, but palpation showed the calvarium to be very irregular, with numerous small bony nodules over the frontal, parietal, and occipital regions. These nodules were not movable, forming a part of the outer table of the skull. There was a confluent induration of the skin on both sides of the nose, extending infraorbitally, but no nodules were palpable in this region. On the face were several pigmented nevi and fleshy papillomas. A number of small, non-tender cutaneous nodules were present, mainly in the hip regions, but also scattered over the abdomen, thighs, and legs. One nodule over the right tibia was tender. On questioning, the patient stated that occasionally a nodule became inflamed, with discharge of pus. Scattered papillomas occurred over the back. There were small areas of decreased pigmentation on the posterior surfaces of the arms and forearms.