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A newborn with grouped facial skin lesions and subsequent seizures

Michaela Döring1*, Karin Melanie Rohrer1, Ilias Tsiflikas2, Wolfgang Buchenau3, Marko Wilke4, Rupert Handgretinger1, Christian Friedrich Poets3 and Rangmar Goelz3

Author Affiliations

1 Department I – General Paediatrics, Hematology/Oncology, University Hospital Tuebingen, Children’s Hospital, Hoppe-Seyler-Str.1, Tuebingen 72076, Germany

2 Department of Radiology, Diagnostic and Interventional Radiology, University Hospital Tuebingen, Hoppe-Seyler-Str. 3, Tuebingen 72076, Germany

3 Department IV – Neonatology, University Hospital Tuebingen, Children’s Hospital, Calwerstr. 7, Tuebingen 72076, Germany

4 Department III – Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Hospital Tuebingen, Children’s Hospital, Hoppe-Seyler-Str.1, Tuebingen 72076, Germany

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BMC Pediatrics 2014, 14:126  doi:10.1186/1471-2431-14-126

Published: 22 May 2014



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.

Case presentation

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.

Congenital grouped skin lesions; Mixed connective tissue disease; Neonatal lupus erythematosus; Seizure