关键词: Goltz syndrome Goltz-Gorlin syndrome focal dermal hypoplasia functional X-chromosome mosaicism laser

Mesh : Acyltransferases / genetics Focal Dermal Hypoplasia / diagnosis genetics pathology Humans Laser Therapy Membrane Proteins / genetics Mutation

来  源:   DOI:10.1111/dth.15371

Abstract:
Goltz syndrome is an X-linked dominant, multisystem birth defect due to PORCN mutation. The skin findings follow Blaschko\'s lines and often show epidermal atrophy and herniation of subcutaneous fatty tissue. Regarding treatment, light sources can offer a good therapeutic option for some manifestations of this rare disease and improve the aesthetic appearance of the skin lesions. We report two new cases of Goltz syndrome in which the cutaneous findings remarkably improved with pulsed dye laser and carbon dioxide laser.
摘要:
Goltz综合征是一种X连锁优势,PORCN突变导致的多系统出生缺陷。皮肤发现遵循Blaschko的线条,通常显示表皮萎缩和皮下脂肪组织突出。关于治疗,光源可以为这种罕见疾病的某些表现提供良好的治疗选择,并改善皮肤病变的美学外观。我们报告了两例Goltz综合征的新病例,其中脉冲染料激光和二氧化碳激光的皮肤发现显着改善。
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