Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss N S, Poustka A, Eyaid W, Bodurtha J, Nousari H C, Hamosh A, Metzenberg A
Institute of Genetic Medicine and the Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287-4922, USA.
J Pediatr. 2000 Mar;136(3):390-3. doi: 10.1067/mpd.2000.104295.
X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.
X连锁先天性角化不良（DKC）的特征为黏膜白斑和溃疡、皮肤异常、指甲营养不良及全血细胞减少。霍耶拉尔-赫雷达尔松综合征（HHS）包括宫内生长迟缓、小头畸形、智力发育迟缓、小脑畸形及全血细胞减少。一名同时具有HHS和DKC显著特征的患者在DKC1基因中存在一个新生突变，已知该基因与DKC有关。HHS可能是DKC的一种严重形式，在这种形式中，受影响个体在特征性黏膜皮肤特征出现之前就已死亡。
