Walpole I R, Goldblatt J
Department of Pediatrics, University of Western Australia, Perth.
Clin Genet. 1991 Feb;39(2):114-20. doi: 10.1111/j.1399-0004.1991.tb02996.x.
Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.
一个家族三代中的四名成员患有拉普 - 霍奇金少汗性外胚层发育不良综合征，牙齿、毛发、指甲和腭部受累情况各异，具有特征性面容且存在轻度耐热问题。此外，先证者还伴有高汗钠、性腺功能减退、上皮变薄以及明显的瘢痕性头皮萎缩和瘢痕形成。该病症的遗传方式符合常染色体显性模式，并对其表现进行了描述，以进一步明确这种罕见的表型。
