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Neri I., Raone B., Gurioli C., Patrizi A.
Sezione di Dermatologia, Dipartimento di Medicina Interna, dell’Invecchiamento e Malattie Nefrologiche, Università di Bologna, Bologna
Tuberous sclerosis complex (TSC) is characterized by the development of diffuse hamartomas in the skin, eyes, brain, kidneys, liver, heart and lungs. It occurs without predilection for race or gender with an incidence of approximately 1 in 6000-10000 population. Although an autosomal dominant disorder, it appears sporadically in 50-70% of cases. The earliest and most frequent cutaneous signs of TSC are hypopigmented macules, which are among the major diagnostic criteria of the disorder. In this case presentation we describe a patient with confetti-like spots, which is a rare and late-onset cutaneous manifestation included among the minor diagnostic criteria. When involving the upper limbs and the backs of the hands in young adults, this feature may be considered pathognomic for TSC.
language: English, Italian