Sarcoidosis is a multisystem disorder characterized by the formation of noncaseating granulomas (NCGs) in virtually any organ. Scrotal sarcoidosis is an extremely rare manifestation and usually appears with disseminated disease. We report a case of an unusual presentation of disseminated Stage 2 sarcoidosis with histologically proven bilateral intrascrotal involvement, along with classic pulmonary, lymphoid, and dermatological manifestations. The cutaneous findings observed include the specific lupus pernio and the unusual ichthyosis.
A 46 year old African-American man presented to the emergency room with a one year history of increasing bilateral testicular swelling, with recent development of pain and discomfort. Additionally, he endorsed progressive dyspnea and a non-productive cough for the last 10 months. Review of symptoms was positive for a thirty pound unintentional weight loss and the development of non-healing skin lesions over his right face, both over the past year. At initial presentation, he was afebrile, HR 115, BP 124/73, RR 16, and O2 sat 96% RA. Chest auscultation revealed bilateral inspiratory crackles and expiratory wheezes. Genitourinary exam revealed bilateral testicular fullness and bilateral tender inguinal lymphadenopathy. Also noted were multiple, raised, irregular lesions over the right facial region, and polygonal scaly plaques over the pretibial areas of the lower extremities. Scrotal ultrasound showed multiple, confluent hypoechoic masses within both testicles. Chest roentgenogram showed bilateral interstitial infiltrates and bilateral hilar fullness. . A thoracic computed tomography (CT) showed marked mediastinal and hilar lymphadenopathy and extensive perilymphatic micronodules in the mid to upper lung fields. Tumor markers for testicular tumors were unremarkable. The patient underwent a fiberoptic bronchoscopy with an endobronchial biopsy showing NCGs. A shave biopsy of the right facial lesion revealed dermatitis with NCGs. Urology performed testicular biopsies that demonstrated NCGs without evidence of malignancy, obviating the need for an orchiectomy. The patient was diagnosed with disseminated Stage 2 sarcoidosis along with extrapulmonary involvement of the testicles and skin (facial lesions representing lupus pernio and the polygonal scales of the lower extremities representing ichthyosis). He was started and discharged on oral corticosteroids, with improvement of testicular discomfort and dyspnea at follow up.
The prevalence of clinically diagnosed genitourinary sarcoidosis in men is reported to be as low as <0.2%, and 5% in autopsy studies. Sarcoidosis of the male reproductive tract often presents initially as a painless scrotal mass with testicular swelling. The appearance of hypoechoic lesions on scrotal ultrasonography is characteristic of testicular sarcoid. Less than 70 case reports of testicular sarcoidosis exist in the current literature. The vast majority of patients are young, black adults between the ages of 20 to 40. The epididymis is the most common reproductive structure implicated in around 75% of the cases, while the testis is involved in about 50%. Significant morbidity of testicular sarcoidosis involves oligospermia and infertility. There also appears to be an association between testicular cancer and sarcoidosis. Management and treatment of genitourinary sarcoidosis with either systemic corticosteroids or orchiectomy remain a source of debate. Ichthyosiform sarcoidosis is a very rare cutaneous manifestation, and usually presents with asymptomatic, hyperpigmented, polygonal scales over the lower extremities. A vast majority of patients with ichthyosiform sarcoidosis have systemic involvement.
Although sarcoidosis of the male reproductive tract is a very uncommon manifestation, it should be considered with young black patients or those with a known history of sarcoidosis. The rare findings of testicular sarcoidosis and ichthyosiform sarcoidosis should also raise the suspicion of disseminated disease.
Richie Rana, No Financial Disclosure Information; No Product/Research Disclosure Information