Case 1: A six-year-old boy with finger contractures

A six-year-old boy of Chinese descent presents with a six-month history of finger contractures of the right third and fourth digits. His teacher first noticed his inability to lay his right palm flat. There was no history of trauma or infection to the hand, and no other symptoms were present. The patient denied pain and swelling, and could perform regular activities without limitations. His medical history was negative, other than a possible peanut allergy. He had no history of oral ulcers, conjunctivitis or joint pain, and the remaining review of systems was unremarkable. Initial examination revealed a well-appearing boy with contractures of the right third and fourth metacarpal-phalangeal and proximal interphalangeal joints (Figure 1). In addition, his right fourth digit measured 0.2 cm shorter than the left. A 5 cm brown-coloured thickened lesion with a mild erythematous border was observed on the right palm. His left hand appeared normal and his general physical examination was otherwise normal. Finger contractures and thickened skin lesions in a six-year-old boy Laboratory investigations revealed normal complete blood count, electrolyte levels, liver enzyme levels and renal function. C-reactive protein level, erythrocyte sedimentation rate and complement level were normal. Rheumatoid factor and anti-nuclear antibody were negative. Several months later, a similar lesion appeared on the palmar side of his right wrist. The differential diagnosis for finger contracture includes Dupuytren contracture, tenosynovitis, rheumatoid nodules, juvenile idiopathic arthritis, epitheloid sarcoma, granuloma annulare, diabetic cheiropathy, sclerodactyly and morphea. Magnetic resonance imaging of the patient’s hand revealed synovial thickening with enhancement along the joint, tendon and right flexor pollicis longus. With a suspected diagnosis of Dupuytren contracture, the patient underwent a fasciectomy, which revealed heavy inflammation of the tenosynovium and granular deposits infiltrating the flexor tendons. A skin biopsy revealed a sclerotic dermis with lymphocytic inflammatory infiltrate, findings consistent with a diagnosis of morphea. Morphea (or ‘localized scleroderma’) is a chronic inflammatory disease characterized by skin fibrosis. The disease is rare, affecting 2.7 in 100,000 individuals, and is often diagnosed in childhood (1). Unlike systemic scleroderma, morphea rarely involves the internal organs. Patients with morphea often present with fibrosis of the skin, although involvement may extend to fascia, muscle, tendon or bone. Morphea is commonly classified into five subtypes: circumscribed, linear, generalized, pansclerotic and mixed (Table 1). The most common subtype in children is linear morphea, which involves linear plaques that can penetrate through the dermis and underlying connective tissue. Classification criteria for juvenile localized scleroderma Superficial (limited to epidermis and dermis) Deep lesions (involving subcutaneous tissue) Trunk/limbs – linear induration involving dermis, subcutaneous tissue, muscle and underlying bone, affecting limbs and trunk Head (en coup de sabre) – linear induration affecting the face and scalp and sometimes affecting the muscle and underlying bone ≥4 individual plaques (> cm) on at least two of seven anatomical areas that include head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk and posterior trunk Circumferential involvement of the skin, subcutaneous tissue, muscle and bone with no organ involvement Combination of two or more of the above subtypes Superficial (limited to epidermis and dermis) Deep lesions (involving subcutaneous tissue) Trunk/limbs – linear induration involving dermis, subcutaneous tissue, muscle and underlying bone, affecting limbs and trunk Head (en coup de sabre) – linear induration affecting the face and scalp and sometimes affecting the muscle and underlying bone ≥4 individual plaques (> cm) on at least two of seven anatomical areas that include head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk and posterior trunk Circumferential involvement of the skin, subcutaneous tissue, muscle and bone with no organ involvement Combination of two or more of the above subtypes Adapted from reference 1 Classification criteria for juvenile localized scleroderma Superficial (limited to epidermis and dermis) Deep lesions (involving subcutaneous tissue) Trunk/limbs – linear induration involving dermis, subcutaneous tissue, muscle and underlying bone, affecting limbs and trunk Head (en coup de sabre) – linear induration affecting the face and scalp and sometimes affecting the muscle and underlying bone ≥4 individual plaques (> cm) on at least two of seven anatomical areas that include head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk and posterior trunk Circumferential involvement of the skin, subcutaneous tissue, muscle and bone with no organ involvement Combination of two or more of the above subtypes Superficial (limited to epidermis and dermis) Deep lesions (involving subcutaneous tissue) Trunk/limbs – linear induration involving dermis, subcutaneous tissue, muscle and underlying bone, affecting limbs and trunk Head (en coup de sabre) – linear induration affecting the face and scalp and sometimes affecting the muscle and underlying bone ≥4 individual plaques (> cm) on at least two of seven anatomical areas that include head/neck, right upper extremity, left upper extremity, right lower extremity, left lower extremity, anterior trunk and posterior trunk Circumferential involvement of the skin, subcutaneous tissue, muscle and bone with no organ involvement Combination of two or more of the above subtypes Adapted from reference 1 In paediatric studies, the presentation of morphea is subtle, involving a localized area of erythema or waxy induration. One-fifth of patients present with extracutaneous manifestations including musculoskeletal, neurological, autoimmune or ocular conditions (1). Of these, musculoskeletal symptoms are most common and may include arthralgias, synovitis and contractures. The diagnosis of morphea is established clinically but is often supported by a dermatological biopsy. No laboratory abnormality is diagnostic and routine laboratory results may be normal. Rheumatoid factor may be present in 25% to 40% of patients (more commonly in those with arthritis) and 23% to 73% of patients may have a positive anti-nuclear antibody test. Although larger joint contractures are frequent in linear morphea, finger contractures appear to be less common. A review of the literature revealed only one case report of a 65-year-old woman with brown plaques on her back who later developed sclerotic plaques on her upper extremities and flexion contractures of her third, fourth and fifth digits. Her laboratory investigations were normal and a skin biopsy confirmed a diagnosis of morphea (2). The Childhood Arthritis and Rheumatology Research Alliance has developed standardized treatment guidelines for moderate to severe morphea (3). Current recommendations include methotrexate combined with oral prednisone or intravenous methylprednisolone. This treatment can be supplemented with topical corticosteroids or calcineurin inhibitors, and regular physiotherapy. The patient was started on methylprednisolone (30 mg/kg intravenous) administered over three consecutive days per month for three months. Subsequently, methotrexate (12.5 mg oral once weekly) with folic acid, calcium carbonate and vitamin D supplementation were prescribed. The patient saw an occupational therapist biweekly, and exercises and finger splints were recommended. After eight months, his fourth right digit lengthened modestly by 0.4 cm, with no changes to the remaining digits. The lesion on his right palm decreased in width by 0.2 cm, with evidence of decreased erythema. The patient gained 10 degrees in both flexion and extension on his right fourth proximal interphalangeal joint but lost seven degrees of flexion in his distal interphalangeal joint. Overall, the patient has been adjusting well and has reported no limitations to his function. Unlike systemic scleroderma, morphea is usually self-limiting; however, it can be associated with significant morbidity. The disease follows a course of early inflammatory lesions that become indurated, a stabilization phase and, eventually, a burnt-out phase with skin softening and increased pigmentation (1). The average duration of the disease is three to five years. Studies suggest that patients with morphea have some impairment in skin disease-specific health-related quality of life compared with healthy controls (1). Persistent disease can result in long-term growth disturbance, contractures, deformity and muscle atrophy, making early treatment critical. The differential diagnosis for finger contractures is extensive and can include, but is not limited to, musculoskeletal (Duputren’s contracture, tenosynovitis), malignant (epitheloid sarcoma), rheumatological (juvenile idiopathic arthritis, rheumatoid nodules), dermatological (generalized granuloma annulare, morphea) and metabolic causes (diabetic cheiropathy). Finger contractures may be the initial presentation in children with morphea because the disease can involve not only the superficial layers of the skin, but also underlying connective tissue, muscle and bone. Immunosuppressive treatment and physiotherapy should be used to help prevent further deformities.

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