母斑病系译自Phakomatosis,Phakos系希腊语母斑或胎记,该字汇于1923年由van derHoeve杜撰的,其后即广泛被采用,亦有译为斑痣性错构瘤病。临床特征为出生后或生后不久即发现皮肤病变和身体多系统包括眼部、中枢神经、周围神经和交感神经系统和内脏错构瘤所组成。错构瘤可作为先天性异常的一种组织增殖疾患,形态像肿瘤,但它们并无肿瘤的特性,一般不具有不可遏制的生长特点。van der Hoeve(1923)首先提出结节性硬化病和多发性神经纤维瘤病的相互关系,直至1932年和1936年他才正式将结节性硬化病(Bourne- Mycosis is translated from Phakomatosis, the Greek mottoship or birthmark of the Phakos family, which was coined by van derHoeve in 1923 and has since been widely adopted. It has also been translated as speckle-type hamartoma. Clinical features include skin lesions and multiple systems of the body including the eyes, central nervous system, peripheral nerves and sympathetic nervous system and visceral hamartomas found after birth or shortly after birth. Hamartoma can be used as a kind of tissue proliferative disorder with congenital anomaly, like tumor, but they have no tumor characteristic and generally do not have unobstructed growth characteristics. Van der Hoeve (1923) first proposed the relationship between tuberous sclerosis and multiple neurofibromatosis until 1932 and 1936 when he formally referred to the Bourne-