Blaschko line acne on pre‐existent hypomelanosis reflecting a mosaic FGFR2 mutation
Blaschko line acne on pre‐existent hypomelanosis reflecting a mosaic FGFR2 mutation
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Blaschko 线痤疮与先前存在的黑色素减少症有关，反映了镶嵌型 FGFR2 突变
DOI：
10.1111/bjd.13491
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发表时间：
2015
影响因子：
10.3
通讯作者：
Bernabeu Wittel J
中科院分区：
文献类型：
--
作者：
Kiritsi D;Lorente AI;Happle R;Bernabeu Wittel J
亲爱的编辑，痤疮是最常见的皮肤病之一，具有多因素的病因和多个参与者在其复杂的发病机制中的作用。1痤疮也是几种遗传疾病的特征，包括单基因疾病，如自体炎症综合征或Apert综合征。临床上已经描述了几种马赛克形式的痤疮。2、3潜在的分子机制大部分仍是假设的，仅在少数Apert综合征的马赛克表现中进行了探索。4、5我们在这里报告一个12岁的男孩，他在躯干、手臂和面部沿Blaschko线分布的先前存在的色素减退上出现了早期严重的痤疮。我们通过激光解剖显微镜(LDM)分析受影响皮肤的不同区域，DNA分离和FGFR2的序列分析，阐明了这些病变的分子背景。FGFR2编码成纤维细胞生长因子受体2(FGFR2)，与包括Apert综合征在内的一系列先天性骨骼疾病有关。自出生第一年起，患者的手臂和躯干就出现了系统性的线性黑素化。在童年早期，他的智力发育有轻微的延迟，并患有注意力缺陷障碍，因此他接受了哌醋甲酯的治疗。在8岁时，粉刺、炎性丘疹、脓疱疹、结节和疤痕主要出现在色泽较低的区域，沿着躯干、手臂和面部的Blaschko线发展(图1a-c)。口服异维A酸6个月后缓解，留下线状疤痕。在3年的随访中没有发现复发(图1D)，在同一时期也没有发现进一步的智力缺陷的证据。血液参数始终保持在正常范围内。脑部的核磁共振成像没有发现异常，全面的全身检查也没有发现骨缺陷。家族病史平淡无奇。在获得知情同意后，对患者及其父母的血液进行乙二胺四乙酸(EDTA)测试，并从患者背部的线性痤疮皮损进行皮肤活检。
DEAR EDITOR, Acne is one of the most common skin diseases, with a multifactorial aetiology and multiple players contributing to its complex pathogenesis. 1 Acne is also a feature of several genetic conditions, including monogenic disorders such as autoinflammatory syndromes or Apert syndrome. Several mosaic forms of acne have been described clinically. 2, 3 The underlying molecular mechanisms remain mostly hypothetical and have only been explored in a few cases of mosaic manifestation of Apert syndrome. 4, 5 Here we report a 12-year-old boy who developed early, severe acne on pre-existent hypopigmentations distributed along Blaschko lines on the trunk, arms and face. We elucidated the molecular background of these lesions by analysing different areas of the affected skin with laser dissection microscopy (LDM), DNA isolation and sequencing of FGFR2, which encodes fibroblast growth factor receptor 2 (FGFR2), which is associated with a spectrum of congenital skeletal disorders, including Apert syndrome.Since his first year of life, the patient had systematized linear hypomelanosis on the arms and trunk. During early childhood he had a minor delay in mental development and an attention deficit disorder for which he was treated with methylphenidate. At the age of 8 years, acne with comedones, inflammatory papules, pustules, nodules and scars developed predominantly on the hypopigmented areas, following the Blaschko lines on the trunk, arms and face (Fig. 1a–c). Remission was achieved with oral isotretinoin for 6 months, leaving behind linear scars. No recurrence was noticed during a 3-year follow-up (Fig. 1d), and no further evidence of mental deficiency was found during the same period. Blood parameters remained within the normal range throughout. Magnetic resonance imaging of the brain revealed no abnormalities, and a thorough full-body check-up disclosed no bone defects. Family history was unremarkable. After informed consent was obtained, an ethylenediaminetetraacetic acid (EDTA) test was performed on blood taken from the patient and his parents, and one skin biopsy from a linear acne lesion on the back of the patient was performed.
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