Department of Paediatric Rheumatology, Royal Manchester Children's Hospital, Charlestown Road, Manchester and 1Education and Research Centre, Wythenshawe Hospital, Southmoor Road, Manchester M23 9LT, UK
Correspondence to:
A. V. Ramanan E-mail: avramanan{at}hotmail.com
SIR, Childhood sarcoidosis is a rare multisystem granulomatous disease. Skin and muscle involvement in childhood sarcoidosis is well described. We report a child with late-onset childhood sarcoidosis limited to skin and muscle causing no symptoms whatsoever. The cosmetically disfiguring lesions seen in our patient were extremely refractory to treatment.
A 13-yr-old girl presented with a 6-month history of a painless swelling on the lateral aspect of her right lower calf, with no history of trauma (Fig. 1). Three months after the initial swelling, she developed another swelling on her left calf. She was fully immunized, including BCG. There was a family history of rheumatoid arthritis in both grandmothers and insulin-dependent diabetes in the maternal grandmother. Radiography of the lower leg showed no bony abnormality and MRI showed the appearance of diffuse oedema affecting multiple muscles in both lower legs in keeping with myositis (Fig. 2). Haematological and biochemical investigations including erythrocyte sedimentation rate, C-reactive protein, creatinine kinase and urine protein creatinine ratio were normal. A high angiotensin-converting enzyme (ACE) level of 126 IU/l (normal range: 1555) was noted. A full immunology profile including complement was normal. A full-thickness skin and muscle biopsy revealed a florid granulomatous process in subcutaneous tissue with well-formed epitheloid granulomas, consisting of both multinucleated foreign body- and Langerhans-type giant cells, present in the fat and in part replacing it (Fig. 3). Special stains showed no evidence of acid-fast bacilli and no definite caseation. The biopsy was consistent with well-formed sarcoid granulomas in muscles and subcutaneous tissues with no necrosis or vasculitis. Five months following the initial presentation, she developed another swelling on her right forearm and 13 months later a swelling on her left forearm. Infectious work-up was negative for tuberculosis (skin test and chest radiograph), and serology was negative for Brucella spp., adenovirus, Coxiella burnetti, Histoplasma capsulatum, Treponema pallidum, Chlamydia spp., Aspergillus fumigatus, Bartonella hensulae and B. quintana.
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Childhood sarcoidosis is a rare disease with an estimated incidence of 0.220.27 per 100 000 in one study [1]. It is a chronic idiopathic disorder characterized by the accumulation of mononuclear phagocytes with formation of non-caseating granulomas. The clinical manifestations are protean in nature.
Cutaneous involvement is seen in a quarter of cases in adult patients. In children, skin involvement is seen in about 77% of young children and 2440% of older children [2]. There are a few reports of isolated cutaneous sarcoidosis in children [3]. Our patient had isolated musculocutaneous involvement. Cutaneous sarcoidosis has been described to be responsive to steroids, methotrexate, hydroxychloroquine and other agents [4, 5].
In our patient the diagnostic possibilities included infectious and neoplastic causes. After excluding infection and malignancy, diagnosis of sarcoidosis was based on the raised ACE levels on several occasions and characteristic histopathological changes.
Our patient's cutaneous manifestations were unresponsive to steroids, methotrexate and hydroxychloroquine. It is quite possible that other agents may work, but immunosuppressive therapy may not be warranted in asymptomatic disease. In this case, the patient opted for treatment because of the disfigurement. Our case highlights the rarer manifestations of cutaneous sarcoidosis and the possibility of a poor response to therapy.
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