Hofstra R M, Sijmons R H, Stelwagen T, Stulp R P, Kousseff B G, Lips C J, Steijlen P M, Van Voorst Vader P C, Buys C H
Department of Medical Genetics, University of Groningen, The Netherlands.
J Invest Dermatol. 1996 Aug;107(2):215-8. doi: 10.1111/1523-1747.ep12329651.
In several families, multiple endocrine neoplasia type 2A (MEN 2A) has been found in association with cutaneous lichen amyloidosis. It has been debated, however, whether the skin amyloidosis found in MEN 2A families, localized exclusively in the interscapular area, represents the same anomaly as that found in autosomal dominant familial cutaneous lichen amyloidosis, which is more generalized. We screened two MEN 2A families with associated skin amyloidosis for germline mutations in the RET gene responsible for the MEN 2A cancer syndrome, and found the same mutation characteristic of MEN 2A in both families. We also screened probands from three pedigrees with familial cutaneous lichen amyloidosis for RET mutations. In none of the RET coding and flanking intronic sequences was a mutation detected. This most probably indicates that skin amyloidosis found in some MEN 2A families and familial cutaneous lichen amyloidosis are different conditions. Consequently, patients with apparent familial cutaneous lichen amyloidosis do not appear to be at risk for MEN 2A.
在多个家族中，已发现2A型多发性内分泌腺瘤病（MEN 2A）与皮肤苔藓样淀粉样变有关。然而，MEN 2A家族中发现的皮肤淀粉样变，仅局限于肩胛间区域，是否与常染色体显性遗传的家族性皮肤苔藓样淀粉样变中发现的异常相同，后者更为广泛，这一直存在争议。我们对两个伴有皮肤淀粉样变的MEN 2A家族进行了筛查，寻找与MEN 2A癌症综合征相关的RET基因种系突变，在两个家族中均发现了MEN 2A特有的相同突变。我们还对来自三个家族性皮肤苔藓样淀粉样变家系的先证者进行了RET突变筛查。在RET编码区及其侧翼内含子序列中均未检测到突变。这很可能表明，一些MEN 2A家族中发现的皮肤淀粉样变与家族性皮肤苔藓样淀粉样变是不同的病症。因此，明显患有家族性皮肤苔藓样淀粉样变的患者似乎没有患MEN 2A的风险。
