Bernstein Megan L, McCusker Meagen M, Grant-Kels Jane M
Division of Dermatology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Pediatr Dermatol. 2008 Mar-Apr;25(2):150-7. doi: 10.1111/j.1525-1470.2008.00620.x.
Cystic fibrosis is an autosomal recessive disease reported in 1 in 2500 live births in Northern American and Northern European Caucasian populations. Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat. Less well-recognized findings associated with cystic fibrosis include cutaneous findings, which can be primary or secondary manifestations of the disease process. Patients demonstrate more atopic and drug hypersensitivity reactions than the general population, but have similar rates of urticaria compared with the general population. In atypical presentations of cystic fibrosis, the nutrient deficiency dermatitis of the disease may aid with diagnosis, and notably can be the presenting sign. Other dermatologic manifestations of cystic fibrosis include early aquagenic skin wrinkling and cutaneous vasculitis, which can be associated with arthralgias. Familiarity with the nutrient deficiency dermatitis of this entity may play a role in the timely diagnosis of the disease, and the other cutaneous findings add to our understanding of the protean nature of its manifestations.
囊性纤维化是一种常染色体隐性疾病，在北美和北欧白种人群中，每2500例活产婴儿中就有1例患病。典型的疾病表现包括气道和鼻窦的慢性细菌感染、脂肪吸收不良、男性不育以及汗液中氯化物浓度升高。与囊性纤维化相关但较少被认识的表现包括皮肤表现，其可为疾病过程的原发性或继发性表现。与普通人群相比，患者表现出更多的特应性和药物过敏反应，但荨麻疹发生率与普通人群相似。在囊性纤维化的非典型表现中，该疾病的营养缺乏性皮炎可能有助于诊断，且尤其可能是首发症状。囊性纤维化的其他皮肤表现包括早期的水源性皮肤皱纹和皮肤血管炎，后者可能与关节痛有关。熟悉该疾病的营养缺乏性皮炎可能有助于及时诊断，而其他皮肤表现则有助于我们理解其表现形式的多样性。
