Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis
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DOI：
10.1016/j.jaad.2010.09.714
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发表时间：
2011-12-01
影响因子：
13.8
通讯作者：
Bodemer, Christine
中科院分区：
文献类型：
--
作者：
Olaiwan, Amani;Chandesris, Marie-Olivia;Bodemer, Christine
背景：最近在常染色体显性遗传(AD)高IgE综合征(HIEs)中发现的STAT3突变改善了HIEs的临床、遗传学和分子分类。目的：我们试图描述分子诊断的AD-HIEs的皮肤体征特征。方法：我们对21例AD-HIEs患者进行了回顾性研究，并证实了STAT3突变，这些患者在法国巴黎Necker-Enfants Malade医院接受治疗。结果：67%的患者在2个月前面部和头皮出现丘疹。这一“早期皮疹”与其他新生儿脓疱性皮疹的区别在于丘疹和脓疱性结壳、皮疹强度和慢性皮炎的连续性。湿疹皮炎几乎总是出现在18个月前(95%的患者)，主要局限于面部、头皮、胸部和臀部。所有患者都有感染性皮炎(金黄色葡萄球菌)，59%的患者有口腔粘膜和指甲的慢性念珠菌病。皮肤疱疹病毒感染并不异常严重。限制：这是一项对少数患者进行的回顾性研究。结论：当血清IgE水平是年龄合适水平的10倍时，新生儿丘疹丘疹皮疹进展为不同于经典特应性皮炎的慢性脓疱性湿疹皮炎，高度提示AD-HIEs。早期识别对于预防、抗葡萄球菌和抗真菌治疗非常重要。(J am Acad Dermatol 2011；65：1167-72。)
Background: Recent identification of STAT3 mutations in autosomal dominant (AD) hyper-IgE syndrome (HIES) has improved the clinical, genetic, and molecular classification of the HIES.Objective: We sought to characterize the cutaneous signs observed in molecularly diagnosed AD-HIES.Methods: We conducted a retrospective study of 21 patients with AD-HIES and confirmed STAT3 mutations, treated at Necker-Enfants Malades Hospital, Paris, France.Results: A papulopustular rash on the face and scalp before the age of 2 months was observed in 67% of patients. This "early rash" was distinguished from other neonatal pustular eruptions by crusted papules and pustules, rash intensity, and a continuum with chronic dermatitis. An eczematous dermatitis was almost always present before the age of 18 months (95% of patients) and was mainly confined to the face, scalp, chest, and buttocks. All patients presented with infected dermatitis (Staphylococcus aureus) and 59% had chronic candidiasis of the oral mucosa and nails. Cutaneous herpes virus infections were not unusually severe. Coarse facial skin at puberty, and sometimes at a younger age, with prominent follicular ostia resembling atrophoderma vermiculatum was not related to severe acne or facial abscesses.Limitations: This was a retrospective study with a small number of patients.Conclusion: When associated with serum IgE levels 10 times the age-appropriate level, a neonatal papulopustular rash progressing to a chronic impetiginized eczematous dermatitis that differs from classic atopic dermatitis is highly suggestive of AD-HIES. Early recognition is important for initiation of prophylactic antistaphylococcal and antifungal treatment. (J Am Acad Dermatol 2011;65:1167-72.)