A 35 years-old man was sent to the rheumatology consultation with a 3-year history of arthralgia and purple coloration of the skin of the fingers of the hands and feet (Fig. 1). The patient complained of purple swollen of the skin with joint pain and reduced range of motion.

Fig. 1.

Hand and feet skin lesions at presentation (A) and after 10 months of treatment (B).

(0.37MB).

The lab tests showed an increase of the liver enzymes: AST 95U/L (10–37), ALT 130U/L (10–37), gamma-GT 317U/L (10–49), alkaline phosphatase 561U/L (30–120), hypergammaglobulinemia, a low titer positive rheumatoid test and a positive anti-smooth muscle antibody. Abdominal ultrasound and a liver MRI evidenced an enlarged liver (without focal lesions) and retroperitoneal lymphadenopathy. A lymphoproliferative disease was suspected.

Liver and lymph node biopsies showed the presence of epithelioid granulomas. Infectious causes associated with granulomatous processes were excluded.

Hands and feet radiography evidenced the presence of bone cystic lesions on phalanges suggestive of sarcoidosis.

We also assessed the involvement of other organs. Full body scintigraphy with gallium showed hyperfixation in several mediastinal and abdominal lymph nodes and high resolution chest-CT confirmed these findings, in a pattern suggestive of lymph node sarcoidosis. No lesions were found in the pulmonary parenchyma. Angiotensin converting enzyme (ACE) level was significantly elevated (117U/L, range 20–70).

The patient was submitted to a skin biopsy, in which were also visible epithelioid granulomas with rare giant multinucleated cells.

Confirmed the diagnosis of sarcoidosis with bone, skin, liver and lymph node involvement, the patient started prednisolone 40mg/day, with rapid improvement of the joint pain, skin lesions (Fig. 1) and analytical abnormalities.

Sarcoidosis is a rare disease with heterogeneous presentation characterized by the formation of non-caseating granulomas.

Bone involvement is usually associated to lung, skin and lymph node involvement,1,2 as in the case described. Bone lesions are asymptomatic in half of the cases, although they may present with bone or joint pain or edema. In conventional X-ray, bone lesions usually appear as cystic, lytic or permeative lesions, and are usually visible on phalanges.1,3 Asymptomatic patients usually do not require specific treatment.1 Symptomatic patients may need treatment: NSAIDs, corticosteroids, methotrexate, hydroxychloroquine, and infliximab are described in the literature for this purpose.1,2

Skin lesions have a predilection for black women.4 They are divided into two large groups: those specific of sarcoidosis (with evidence of granuloma) and nonspecific (with inflammatory changes but no identifiable granulomas).5,6 Erythema nodosum is the most common non-specific injury of sarcoidosis, and is a sign of the Löfgren syndrome.7 The specific cutaneous lesions of sarcoidosis usually cause no other symptoms beyond the cosmetic changes and are very heterogeneous in their appearance.5 In this group stands out lupus pernio for being one of the few lesions with some distinctive features: violet papules and nodules that coalesce on plaques, with predilection for face, especially nose, ears and perioral region.4 They can also appear in the fingers,4,6 but the simultaneous involvement in both hands and feet never was described to the best of our knowledge, as seen in this case presented.

Most patients remain asymptomatic and have only a slight increase in liver function enzymes.8 Treatment with corticosteroids usually normalize liver enzymes, but is not recommended for asymptomatic patients with no involvement of other organs, since delay in treatment rarely leads to significant liver damage.9

Our clinical case emphasizes the difficulty in diagnosis with an atypical presentation. It is very important to keep a high level of awareness to the diagnosis of sarcoidosis. Joint and bone involvement is uncommon, the skin lesions will be variable and it is important to know them.

The authors declare no conflict of interest.