Poomeechaiwong S, Golitz L E
University of Colorado School of Medicine, Denver General Hospital.
Adv Dermatol. 1990;5:257-87; discussion 288.
Hamartomas of the skin are tumor-like malformations of mature or nearly mature structures that are part of the normal structure of skin. The onset is usually at birth; however, it may be delayed until childhood or early adulthood. Hamartomas may occur on any part of the body and are sometimes linear and unilateral. Histologically, they may show an alteration of a single cell line or of multiple related cell lines. Some types of the hamartomas may be markers for underlying internal organ abnormalties, such as the epidermal nevus syndrome, the nevus comedonicus syndrome, or the organoid nevus syndrome. Some may be prone to develop various secondary benign or malignant tumors as in an organoid nevus. Hamartomas may occur as solitary, sporadic lesions unrelated to other conditions or as multiple lesions that are inherited as an autosomal trait. The latter are often associated with systemic abnormalites. Hamartomas such as Becker's pigmented hairy nevus appear to be inherited as an autosomal dominant trait, but the late onset and variable expression may be under hormonal influence. So far only tuberous sclerosis has been shown to be related to a specific chromosomal abnormality, mutant gene located on the long arm of chromosome 9.
皮肤错构瘤是成熟或近乎成熟结构的肿瘤样畸形，这些结构是皮肤正常结构的一部分。发病通常在出生时；然而，也可能延迟至儿童期或成年早期。错构瘤可发生于身体的任何部位，有时呈线状且单侧分布。在组织学上，它们可能表现为单一细胞系或多个相关细胞系的改变。某些类型的错构瘤可能是潜在内脏器官异常的标志物，如表皮痣综合征、黑头粉刺痣综合征或类器官痣综合征。有些可能易于发展为各种继发性良性或恶性肿瘤，如类器官痣。错构瘤可表现为与其他情况无关的孤立、散发性病变，或作为常染色体性状遗传的多发性病变。后者常与全身异常有关。诸如贝克尔色素性毛痣之类的错构瘤似乎作为常染色体显性性状遗传，但发病较晚和表达多变可能受激素影响。到目前为止，仅结节性硬化症已被证明与特定的染色体异常有关，即位于9号染色体长臂上的突变基因。
