Erdheim-Chester disease: an unusual presentation of an uncommon disease.

[erdheim-chester disease]

Erdheim-Chester disease (ECD ) is a rare , non-Langerhans cell histiocytosis with classic radiographic findings of patchy or diffuse osteosclerosis predominantly involving the long bones in a bilaterally symmetrical pattern . A 49 -year -old woman presented with diffuse lymphadenopathy , painful skin lesions , and constitutional symptoms . Recent history was significant for a nontraumatic fracture of the tibia 3 weeks prior to admission . Physical examination and laboratory studies were notable for lower extremity pain and swelling , nodular lesions on the skin , and normocytic , normochromic anemia . Plain radiographs showed a lytic pattern of destruction with a superimposed fracture in the left proximal tibia . MRI showed focal bone marrow replacement extending from the subchondral bone to the tibial diaphysis . Excisional lymph node and skin biopsies of the lesions demonstrated a CD-68 positive , S-100 variable , and CD 1 a-negative histiocytic cell proliferation filling the dermis and completely replacing the sampled lymph node with an accompanying chronic inflammatory infiltrate and fibrosis , pathognomonic for ECD . We report an unusual case of ECD presenting initially as diffuse , painful lymphadenopathy , and subsequently demonstrating a lytic lesion of the tibia underlying a nontraumatic fracture .

Diseases
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Diseases presenting "superimposed fracture in the left proximal tibia" symptom

erdheim-chester disease

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