Congenital Langerhans-Cell Histiocytosis

A female infant delivered at term by cesarean section had a “blueberry muffin” rash at birth. On physical examination, multiple purple, papulonodular lesions measuring 5 to 10 mm in diameter were seen on her trunk, arms and legs, palms and soles, oral mucosa, and palpebral conjunctiva.

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There was no lymphadenopathy or hepatosplenomegaly, and the results of funduscopy were normal. The results of initial laboratory tests, including a complete blood count, a peripheral-blood smear, a reticulocyte count, a metabolic panel, and a coagulation test, were normal. A chest radiograph was normal, as were the results of ultrasonography of the head and abdomen.

Neither rubella nor cytomegalovirus IgM or IgG was detected in the mother or the infant. A biopsy specimen of the skin obtained from the right thigh showed a dense infiltrate of histiocytes with grooved, kidney-shaped nuclei. Immunohistochemical staining of the specimen was positive for S100+ CD1a+ and negative for CD43 and myeloperoxidase, findings that confirmed a diagnosis of skin-limited congenital Langerhans-cell histiocytosis.

Because of the lack of extracutaneous involvement, the lesions were expected to resolve without treatment. At follow-up 6 weeks after delivery, the skin lesions had resolved. The infant continues to be followed for signs of recurrence.