Department I - General Paediatrics, Hematology/Oncology, University Hospital Tuebingen, Children's Hospital, Hoppe-Seyler-Str,1, Tuebingen 72076, Germany.
BMC Pediatr. 2014 May 22;14:126. doi: 10.1186/1471-2431-14-126.
Congenital grouped skin lesions are alarming signs of a variety of threatening diagnoses of quite different origin. The present case report shows an impressive clinical pattern of a neonate and illustrates the difficulty in differential diagnosis of mixed connective tissue disease and neonatal lupus erythematosus in newborns. This reported case is to our knowledge the first description of an unrecognized mixed connective tissue disease in the mother with an unusual clinical manifestation in the newborn, comprising skin lesions, neurological damage and non-typical antibody constellation.
We report on a Caucasian female neonate from a perinatally asymptomatic mother, who presented with grouped facial pustular-like skin lesions, followed by focal clonic seizures caused by multiple ischemic brain lesions. Herpes simplex virus infection was excluded and both the mother and her infant had the antibody pattern of systemic lupus erythematosus and neonatal lupus erythematosus, respectively. However, clinical signs in the mother showed overlapping features of mixed connective tissue disease.
This case report emphasizes congenital Lupus erythematosus and mixed connective tissue disease as important differential diagnoses of grouped skin lesions in addition to Herpes simplex virus-infection. The coexistence of different criteria for mixed connective tissue disease makes it difficult to allocate precisely maternal and congenital infantile disease.
先天性皮肤簇集性病变是多种不同来源的威胁性诊断的警示标志。本病例报告展示了一例新生儿的令人印象深刻的临床特征，并说明了混合性结缔组织病和新生儿红斑狼疮在新生儿中的鉴别诊断困难。据我们所知，该报道的病例是首例在无症状的母亲中发现的未被识别的混合性结缔组织病，在新生儿中表现出不典型的皮肤损伤、神经损伤和抗体特征。
我们报告了一例来自围产期无症状母亲的高加索女性新生儿，其表现为簇状面部脓疱样皮肤损伤，随后因多发性缺血性脑损伤出现局灶性阵挛性癫痫。排除了单纯疱疹病毒感染，母亲和婴儿的抗体模式分别为系统性红斑狼疮和新生儿红斑狼疮。然而，母亲的临床症状表现出混合性结缔组织病的重叠特征。
本病例报告强调了先天性红斑狼疮和混合性结缔组织病是除单纯疱疹病毒感染外，皮肤簇集性病变的重要鉴别诊断。混合性结缔组织病的不同标准共存使得难以精确分配母体和先天性婴儿疾病。
