An 8-month-old male infant of African-American inheritance was referred to our hospital for evaluation of a progressively worsening rash, first noticed at the age of 6 weeks. Additionally, he had complaints of fever, poor feeding, and a distended abdomen. On admission, he was found to have an extensive erythematous rash with fissuring, scaling, and crusting. Abdominal examination revealed gross hepatosplenomegaly confirmed by ultrasonography. Lab studies were significant for anemia, thrombocytopenia, and an elevated CRP. Other laboratory tests and imaging studies were essentially negative. The patient was started on intravenous antibiotics, and in consultation with several subspecialties, a working diagnosis of Langerhans' cell histiocytosis (LCH) was reached. This diagnosis was subsequently confirmed by a skin biopsy, which showed infiltration of Langerhans' cells (LCs) in the papillary dermis. Immunohistochemical staining of these cells was positive for CD1a and S-100. The patient was started on chemotherapy with vinblastine and prednisone. After the first round of treatment, there was an apparent improvement in the patient's clinical status as assessed by a healing of his rash, return to normal feeding, and a decrease in hepatosplenomegaly. Here we present a case of systemic LCH, historically classified under the syndrome Letterer-Siwe disease. The term LCH encompasses a group of disorders of uncertain etiology, which are characterized by proliferation of the dendritic mononuclear Langerhans' cells. The classic presentation of Letterer-Siwe disease is of a child less than 2 years of age who presents with the clinical description detailed above. Thrombocytopenia is of grave prognostic significance. Since the incidence of the syndrome is rare (0.5/million/yr cases in the United States), there is frequently a delayed or misdiagnosis. The clinician may be alerted to a more serious etiology when a child younger than 2 years presents with an eczematous rash that has failed to respond to corticosteroid therapy or has severe, unexplained multiorgan disease. The mainstay of diagnosis is a skin biopsy, which shows the histologic picture and staining characteristics as described above. Once the diagnosis is made, the extent of the disease is determined by appropriate imaging and laboratory studies. The prognosis of Letterer-Siwe disease is poor, with a > 50% mortality rate. Treatment for the syndrome includes the chemotherapeutic agents vinblastine, etoposide, mercaptopurine, and methotrexate combined with steroids such as prednisolone. When possible, patients are best referred to treatment centers specializing in histiocytosis management.
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