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
Validation

Diseases presenting "pain" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

aniridia

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

pleomorphic liposarcoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

trochlear dysplasia

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

This symptom has already been validated