Anti‐desmoglein 1 antibody‐positive mother and antibody‐negative child with Darier's disease
Anti‐desmoglein 1 antibody‐positive mother and antibody‐negative child with Darier's disease
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抗桥粒芯糖蛋白 1 抗体阳性母亲和抗体阴性儿童患有达里尔病
DOI：
10.1111/1346-8138.16568
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Kanazawa Nobuo
中科院分区：
文献类型：
--
作者：
Kawaguchi Ami;Matsuda Mitsuhiro;Koga Hiroshi;Ohata Chika;Hamada Takahiro;Mishima Hiroyuki;Yoshiura Koh‐ichiro;Jinnin Masatoshi;Minami Hironori;Kanazawa Nobuo
我们报告一位母亲和一个成年儿子与达里尔的疾病。母亲，76岁，日本人，抗桥粒芯糖蛋白（Dsg）1抗体阳性。她出现红斑伴角化过度、脂溢性和间质性水疱。在血清中检测到高水平的抗Dsg1抗体。组织学检查显示棘层松解，直接免疫荧光试验显示表皮细胞间IgG和C3沉积。虽然她被诊断为落叶型天疱疮，但免疫抑制治疗后皮肤病变略有改善。她的儿子，47岁，在脂溢性和间质部分有类似的皮肤病变，但血清中的抗Dsg1抗体呈阴性。组织学检查显示棘层松解和角化不良细胞。虽然最初怀疑Hailey-Hailey病，但在两名患者中均未检测到ATP 2C1突变。包括父亲在内的三外显子组分析显示ATP 2A 2外显子14上存在杂合c.2027C> A转换，仅导致母亲和儿子的第676位氨基酸（p.Ala676Asp）发生替换。这两名患者随后被诊断为患有Darier病。外显子组分析进一步表明，一个新的杂合错义突变的DSG 1被确定只有在受影响的母亲。本文首次报告抗Dsg 1抗体阳性的达里尔氏病。非常罕见的Darier病和抗Dsg 1抗体阳性的共存可能与这种新的异质性DSG 1突变有关。需要实验证据来证实这一假设。
We report a mother and an adult son with Darier's disease. The mother, 76 years old and Japanese, had positivity for anti‐desmoglein (Dsg)1 antibodies. She had erythema with hyperkeratosis and seborrheic and interstitial blistering. A high level of anti‐Dsg1 antibodies was detected in the serum. Histopathological examination showed acantholysis and direct immunofluorescence testing revealed intercellular IgG and C3 deposition of the epidermis. Although she was diagnosed as having pemphigus foliaceus, the skin lesions slightly improved with immunosuppressive therapy. Her son, 47 years old, had similar skin lesions on the seborrheic and interstitial parts, but the anti‐Dsg1 antibodies were negative in his serum. Histopathological examination showed acantholysis and dyskeratotic cells. Although Hailey‐Hailey disease was first suspected, no mutation in theATP2C1was detected in either patient. Trio‐exome analysis including the father showed a heterozygous c.2027C>A transition on exon 14 ofATP2A2, causing a replacement at amino acid 676 (p.Ala676Asp) in the mother and son only. The two patients were then diagnosed as having Darier's disease. Exome analysis further showed that a novel heterozygous missense mutation ofDSG1was identified only in the affected mother. Anti‐Dsg1 antibody‐positive Darier's disease is reported here for the first time. Very rare coexistence of Darier's disease and anti‐Dsg1 antibody‐positivity might be associated with this novel heterozygousDSG1mutation. Experimental evidence is required to validate this hypothesis.
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