Schwartz R A, Spicer M S, Leevy C B, Ticker J B, Lambert W C
New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark 07103-2714, USA.
Dermatology. 1996;192(3):258-61. doi: 10.1159/000246379.
A number of genetic disorders have been described in limited form. We report a patient with precocious puberty, large irregularly shaped café-au-lait spots since birth and a diffuse scalp alopecia showing the cutaneous changes of fibrous dysplasia. Histologically, the hair follicles were replaced by convolutions of fibrous tissue. This is to our knowledge the first patient reported with an apparently localized cutaneous form of this syndrome, a pattern predicted by the recently described somatic mutation of the Gs alpha gene. This is the second patient reported to our knowledge with the cutaneous McCune-Albright syndrome and scalp alopecia, and the first with diffuse scalp alopecia, the latter being the presenting sign. We believe that the differential diagnosis of both localized and diffuse alopecia should include the McCune-Albright syndrome.
已有多种遗传疾病以有限的形式被描述。我们报告了一名患有性早熟、自出生起就有大量形状不规则的咖啡牛奶斑以及弥漫性头皮脱发的患者，其皮肤表现出纤维性发育异常。组织学检查显示，毛囊被纤维组织的卷曲所取代。据我们所知，这是首例报告的患有该综合征明显局限性皮肤表现形式的患者，这种模式是由最近描述的Gsα基因体细胞突变所预测的。据我们所知，这是第二例报告的患有皮肤型麦库恩-奥尔布赖特综合征和头皮脱发的患者，也是首例患有弥漫性头皮脱发的患者，后者是主要症状。我们认为，局限性和弥漫性脱发的鉴别诊断都应包括麦库恩-奥尔布赖特综合征。
