Het basocellulaire nevus syndroom

The B.N.S. shows certain similarities to other systemic diseases. these diseases are often referred to as "familial degenerative diseases" ln chapter 8 the common characteristic of theses syndromes are reviewed. The B.N.S. is often characterized by the presence of hamartomas and the tendency toward the growth of tumours in various organs. Thus the syndrome may be ranged with Neurofibromatosis, M. Pringle-Bourneville, M. von Hippel-Lindau, M. Sturge-Weber, Peutz-Jeghesr syndrome, Gardner's syndrome,etc. Eventually Van Der Hoeve (1938), Musger (1964) and Nicholls( 1970) classified these lesions under the name of phacomatosis. Although patients have been described who have had additional symptoms of other syndromes (Neurofibromatosis, Turner's syndrome, Klippel-Feil syndrome, Marfan's syndrome) the basocellular naevus syndrome must be considered a distinct clinical entity. Though there is some similarity to other syndromes, transitional stages cannot be referred to between the different syndromes. When the symptomso f the B.N.S. are known, the actual diagnosis is not difficult. The characteristic symptoms are: multiple basocellular naevi/carcinomas, Mantoux's porokeratosis, multiple epithelial cysts of the skin, multiple primordial jaw-cysts, skeletal anomalies (sella turcica, shape and size of the skull, etc.) and ectopic calcifications. Additional occurrence of eye-lesions and neurological disturbances as well as familial incidence, may be useful for making a correct diagnosis. The expressivity of the responsible gene, however, is so variable( tables7 .1,7 .2) and age-dependent that it is possible that no cutaneous o jaw lesions are present. In these cases especially, skeletal anomalies contribute to a correct diagnosis. That is because they are not age-dependent. Recognition of the syndrome in an early stage is important for early treatment of basocellular carcinomas and primordial jaw-cysts. In this way the prognosis may be improved and extensive mutilations of tissue are prevented. Frequent and life-long control is necessary in order to recognize and treat new tumour formations as early as possible