Larrègue M, Poitou C, Bressieux J P, de Giacomoni P, Vant F
Ann Dermatol Venereol. 1977 May;104(5):349-54.
About a spontaneously regressive case of osteo-cutaneous congenital fibromatosis, the authors describe the characteristics of the disease (32 observations). Although the majority of cases are sporadic, 3 familial observations are in favour of a dominant autosomal transmission of low penetrance. Study of the familial cases and analysis of the different localisations demonstrate the unicity of the so-called diffuse forms with visceral involvement and of the so-called generalized forms without visceral involvement congenital fibromatosis is characterized by several fibromas at birth: in two-thirds of the cases, it is a purely cutaneous or osteocutaneous form, which disappears spontaneously; in one third of the cases, it is a cutaneous or osteo-cutaneous form with lethal visceral involvement.
关于一例骨皮肤先天性纤维瘤病的自发消退病例，作者描述了该疾病的特征（32例观察）。虽然大多数病例为散发性，但3例家族性观察支持低外显率的常染色体显性遗传。对家族性病例的研究以及对不同定位的分析表明，伴有内脏受累的所谓弥漫性形式和不伴有内脏受累的所谓全身性形式具有唯一性。先天性纤维瘤病的特征是出生时就有多个纤维瘤：在三分之二的病例中，是单纯皮肤或骨皮肤形式，可自发消失；在三分之一的病例中，是伴有致命内脏受累的皮肤或骨皮肤形式。
