Resident Rounds. Part III. CDS Protocol SAPHO Syndrome

A 57 year-old African American man presented with a 30- year history of painful skin lesions. The patient noted that the lesions begin as tender knots, which drain purulent fluid and become thick and crusted over time. The patient also noted a distant history of severe scarring acne as well as persistent bone pain, joint pain, and morning stiffness.

Past medical history included diabetes mellitus, anemia, and benign prostatic hypertrophy.

Medications included insulin, metformin, and ranitidine.

There were no known drug allergies.

Patient reported several family members with “bad skin”.

The patient reported a social history of two to three alcoholic drinks per week, 1 pack of cigarettes per week, distant history of heroin.

The patient’s cutaneous exam was notable for several patches of scarring alopecia on the scalp and deep cribiform scarring over the bilateral cheeks, nose and forehead. On the right temple, left proximal medial arm and left proximal medial thigh were large fluctuant plaques with overlying cribiform ulcerations, thick overlying crusting and purulent drainage. The extremities had wide spread scarring and innumerable hyperpigmented vegetative nodules. The patient endorsed tenderness of the sternum to palpation.

Abnormal: Hgb 8.5, tissue culture grew multiple mixed microorganisms but no predominating pathogens.

Bone Scintigraphy: Extensive periosteal reaction involving both femurs throughout their length consistent with hyperostosis.

Negative/normal: BMP, LFTs, ANA, RF, HIV, hepatitis serologies, RPR, quantiferon gold, tissue fungus culture & stain, tissue mycobacteria culture & smear.

Right thigh: The sections reveal a markedly corrugated epidermis with irregular proliferative epithelial hyperplastic and reactive changes without evidence of nuclear atypia. There is a deep dermal infiltrate composed of lymphocytes, plasma cells and aggregates of neutrophils. The dermis also shows variable fibroplasia with some edema and telangiectasia. Acantholysis is not noted but there is some dyskeratosis associated with exocytosis of neutrophils. Immunohistochemistry for Treponema and special stains (DPAS, Gram and acid fast bacilli) were negative for microorganisms. Direct immunofluorescence was negative for immune deposits.

The diagnosis was SAPHO syndrome.

Our preferred treatment strategy is to start adalimumab; however, the patient’s insurance denied coverage. We are currently attempting to get the medication at no cost to the patient through a patient assistance program. In the meantime, symptomatic lesions are treated with intralesional triamcinolone acetonide suspension.

The syndrome of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) represents a rare constellation of chronic overlapping osteoarticular and cutaneous manifestations. The clinical presentation is heterogeneous and frequently incomplete, resulting in diagnostic difficulties.

The typical cutaneous manifestations include palmoplantar pustulosis and severe acne, which can manifest as acne conglobata,