Desmons F, Walbaum R
Ann Dermatol Venereol. 1979 Jan;106(1):9-12.
Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.
大多数皮肤遗传性疾病都伴有消化系统症状，但只有四类以消化系统症状为主：一、伴有肠道息肉病的遗传性疾病。二、伴有肠道出血的血管发育异常。三、遗传性疾病中的结缔组织病变。四、伴有腹泻的肠病性肢端皮炎。虽然彼此差异很大，但黑斑息肉综合征和加德纳综合征均按常染色体显性遗传特征遗传。只有双基因或单基因起源仍存在争议。遗传性出血性毛细血管扩张症和蓝色橡皮疱痣综合征也按常染色体显性遗传特征遗传。弹性假黄瘤很可能按常染色体隐性遗传。但埃勒斯-当洛综合征的主要类型为常染色体显性遗传病，其他类型为常染色体隐性或性连锁遗传（Ⅴ型）。肠病性肢端皮炎按常染色体隐性遗传，但该基因的外显率变化很大，因此突变很常见。
