Urban M D, Schosser R, Spohn W, Wentling W O, Robinow M
Department of Pediatrics, Wright State University School of Medicine, Dayton, OH 45435.
Am J Med Genet. 1991 Jun 1;39(3):338-41. doi: 10.1002/ajmg.1320390318.
Hereditary mucoepithelial dysplasia (HMD) is a multiepithelial disorder. It is transmitted as an autosomal dominant trait (McKusick: Mendelian Inheritance in Man-Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 8th edition. Baltimore: The Johns Hopkins University Press, pp 499, 1988). HMD is characterized by variable combinations of lesions of skin, hair, orificial mucosa, gingiva, eyes, and lungs. In some previously described patients, the corneal and pulmonary lesions were progressive and led to blindness, recurrent pneumonia, and/or premature death. On light microscopy, the lesion is characterized by dyskeratosis, and, on electron microscopy, by a paucity of gap junctions and desmosomes. Here, we describe a new 5-generation kindred in which affected individuals had the same histologic characteristics but a somewhat different clinical spectrum and a more benign course. HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs.
遗传性黏液上皮发育异常（HMD）是一种多上皮组织疾病。它作为常染色体显性性状遗传（麦库西克：《人类孟德尔遗传——常染色体显性、常染色体隐性和X连锁表型目录》，第8版。巴尔的摩：约翰·霍普金斯大学出版社，第499页，1988年）。HMD的特征是皮肤、毛发、口腔黏膜、牙龈、眼睛和肺部的病变有多种不同组合。在一些先前描述的患者中，角膜和肺部病变呈进行性发展，导致失明、反复肺炎和/或过早死亡。在光学显微镜下，病变的特征是角化不良，在电子显微镜下，特征是间隙连接和桥粒数量减少。在此，我们描述了一个新的五代家系，其中受影响个体具有相同的组织学特征，但临床谱略有不同，病程更为良性。在儿童期脱发、毛囊角化过度、角结膜炎、青少年白内障、牙龈充血、限制性肺病以及食管狭窄或蹼的鉴别诊断中应考虑HMD。
