Nazzaro V, Gelmetti C, Rizzitelli G, Cavalli R, Brusasco A, Ermacora E
G Ital Dermatol Venereol. 1989 May;124(5):215-20.
Typical cutaneous findings in tuberous sclerosis are present in over 90% of cases and represent one of the earliest markers of the syndrome. Our study, based on 6 pediatric cases, underlines how the skin manifestations vary with the patient's age. Hypopigmented maculae were usually present at birth and remained often the only clinical sign during the first few years of age. Angiofibromas on the face appeared later and were followed by orange-peel patches and then by periungual fibromas. The high spontaneous new mutation rate of tuberous sclerosis seems to be confirmed by our study in which clinical evaluation of first-degree relatives of all patients was negative.
结节性硬化症典型的皮肤表现见于90%以上的病例,是该综合征最早的标志之一。我们基于6例儿科病例的研究强调了皮肤表现如何随患者年龄而变化。色素减退斑通常在出生时就存在,在最初几年往往是唯一的临床体征。面部血管纤维瘤出现较晚,随后是橘皮样斑,然后是甲周纤维瘤。我们的研究似乎证实了结节性硬化症高自发新突变率,在该研究中所有患者一级亲属的临床评估均为阴性。