Chrousos G P, Stratakis C A
Section on Pediatric Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA.
J Intern Med. 1998 Jun;243(6):573-9. doi: 10.1046/j.1365-2796.1998.00341.x.
Lentigines, synonymous but not identical to freckles or ephelides, are common skin lesions. In a small number of patients, however, these lesions constitute part of genetic syndromes that are associated with inherited forms of neoplasias or other pathologic processes of the cardiovascular, endocrine, and gastrointestinal systems. The familial lentiginoses, as these syndromes are collectively known, include Carney complex, the LEOPARD and Peutz-Jeghers syndromes, and the newly described 'syndrome of arterial dissections with lentiginosis'; isolated, familial lentiginosis has also been described. In the majority of the reported kindreds with these syndromes, the lesions were inherited in an autosomal dominant manner. The specific genes that are responsible for these disorders have remained elusive, but the genetic loci of Carney complex and Peutz-Jeghers syndromes were recently identified on chromosomes 2p 16 and distal 19p, respectively. Cytogenetic studies of tumours from patients with Carney complex suggest that the gene responsible for most patients with this syndrome may not have a tumour suppression function. We suggest that the genes responsible for the lentiginosis syndromes are important regulators of melanocyte function, they participate in the pleiotropy of human pigmentation, and are involved in the function, growth and proliferation of neural crest and mesenchymal cells.
雀斑样痣与雀斑或雀斑样疹同义但并不完全相同，是常见的皮肤损害。然而，在少数患者中，这些损害构成了一些遗传综合征的一部分，这些综合征与肿瘤的遗传形式或心血管、内分泌和胃肠道系统的其他病理过程相关。这些综合征统称为家族性雀斑样痣综合征，包括卡尼综合征、豹皮综合征和佩-杰综合征，以及新描述的“伴有雀斑样痣的动脉夹层综合征”；也有孤立性家族性雀斑样痣的报道。在大多数报道的患有这些综合征的家族中，损害以常染色体显性方式遗传。导致这些疾病的特定基因仍然难以捉摸，但卡尼综合征和佩-杰综合征的基因位点最近分别在2号染色体短臂16区和19号染色体远端被确定。对卡尼综合征患者肿瘤的细胞遗传学研究表明，导致大多数该综合征患者发病的基因可能不具有肿瘤抑制功能。我们认为，导致雀斑样痣综合征的基因是黑素细胞功能的重要调节因子，它们参与人类色素沉着的多效性，并涉及神经嵴和间充质细胞的功能、生长和增殖。
