Happle R, König A
Department of Dermatology, University Hospital Marburg, Germany.
Dermatology. 2001;202(3):246-8. doi: 10.1159/000051645.
Co-occurrence of aplasia cutis congenita and nevus sebaceus has sometimes been observed.
We propose a genetic mechanism that may explain this coexistence of two different congenital skin disorders.
We review 15 cases as reported in the literature and present an additional case. To explain the temporal and spatial proximity of the two skin lesions we advance the concept of twin spotting for which we propose the term didymosis (Greek didymos = twin). In an embryo heterozygous for two different recessive mutations localized on either of a pair of homologous chromosomes, an event of somatic recombination would occur at an early developmental stage, giving rise to two different cell clones homozygous for either mutation.
The concept of didymosis aplasticosebacea is so far hypothetical. Future molecular research may show whether this concept holds true.
先天性皮肤发育不全和皮脂腺痣的并发情况时有观察到。
我们提出一种遗传机制,或许可以解释这两种不同先天性皮肤疾病的共存现象。
我们回顾了文献报道的15例病例,并展示了另外1例病例。为了解释这两种皮肤病变在时间和空间上的接近性,我们提出了双斑现象的概念,并为此提出了“双生症”(希腊语didymos = 双胞胎)这一术语。在一个胚胎中,一对同源染色体上的两个不同隐性突变呈杂合状态,在发育早期会发生体细胞重组事件,从而产生两个分别对其中一个突变呈纯合状态的不同细胞克隆。
双生症性皮肤发育不全合并皮脂腺痣的概念目前只是假说。未来的分子研究可能会表明这一概念是否成立。