The Great Masquerader Strikes Again!

A 42-year-old man presented with symptoms of severe low-back pain that was aggravated by activity and bending. He also reported sharp pains radiating down the back of the right thigh. In addition, he had an occasional mild cough with yellowish-gray sputum production. He denied any weight loss, night sweats, fevers, or chills. Physical examination revealed an obese, middle-aged black man with nontender, skin-colored maculopapular eruption over the neck, eyelid, angle of the mouth, and anterior thigh (Figure A, B). Bilateral cervical and axillary nontender mobile adenopathy were noted. The remainder of the physical examination results were normal. Magnetic resonance imaging of the lumbosacral spine demonstrated a mottled appearance of the bone marrow (Figure C). A contrast-enhanced computed tomography (CT) scan of the chest revealed scattered spiculated nodules, some of which had cavitation (Figure D). CT scan of the abdomen and pelvis revealed hepatosplenomegaly with retroperitoneal and mesenteric lymphadenopathy.

A bone marrow biopsy was performed, which revealed a hypercellular marrow with many noncaseating granulomas (Figure E). A punch biopsy from the skin lesion also revealed a multiple noncaseating granulomas. A diagnosis of sarcoidosis was made, and chloroquine was prescribed for the management of his skin lesions. He has had no respiratory symptoms on follow-up and will undergo annual lung function tests to monitor disease activity.

Sarcoidosis has a reputation of presenting in unusual ways. This case exemplifies the tendency of this disease to simultaneously involve multiple organs and mimic a wide variety of malignant and benign diagnoses.

A disease process with multiorgan involvement in the form of cavitary lung nodules, bone marrow involvement, hepatosplenomegaly, and generalized lymphadenopathy point toward a metastatic malignancy. The differential diagnosis also includes some benign causes (Table). The diagnosis in this particular case hinges on the results of the histopathologic analysis. The bone marrow biopsy confirmed a diagnosis of sarcoidosis. Flow cytometry analysis of the marrow aspirate is essential to rule out a lymphoproliferative disease, which sometimes can show bone granulomas on bone marrow biopsy. The biopsy from the skin lesion (lupus pernio) confirmed the results. However, noncaseating granulomas on skin biopsy without evidence of other organ involvement sometimes may not represent sarcoidosis but rather a sarcoid-like granulomatous reaction to a nonspecific cause. Thus, skin biopsy results should not be solely relied on to make a diagnosis of sarcoidosis. Autopsy studies from the 1950s have revealed 20% to 30% bone marrow involvement in patients with sarcoidosis.1 More recent studies indicate that bone marrow involvement is infrequently observed (3%-10%) in clinical practice.2, 3 Those with marrow infiltration have a higher incidence of extrapulmonary organ involvement and marrow cell line dysfunction (anemia, lymphopenia). Moller4 described this triad of liver, spleen, and bone marrow involvement as abdominal “triad” sarcoidosis.