Adult-onset unilateral disabling pansclerotic morphea.

Disabling pansclerotic morphea (DPM) is a rare, severe, and mutilating form of morphea, involving the dermis, subcutaneous tissue, fat, muscle, and even bone. It is usually seen before the age of 14 years, with the patient complaining of arthralgia and stiffness at the time of onset. We report a case of unilateral adult-onset DPM with sparing of the face. Within a few months of onset, painful contracture deformities of the hand, elbow, and shoulder joints developed, impairing the patient's normal daily activities. We are reporting this case because of the unusual presentation: DPM in an adult, with history of trauma in childhood and rapid onset of complications, is rare.

What was known?

Childhood onset affect the face and slow progress to disability.

Introduction

Disabling pansclerotic morphea (DPM) is a rare, severe, and mutilating form of morphea, involving the dermis, subcutaneous tissue, fat, muscle, and even bone.[12] It results in severe functional and psychological impairment due to its aggressive and mutilating course. It is been reported that pansclerotic morphea is seen usually before the age of 14 years.[3] Arthralgia and stiffness occur at the onset of the disease; intense pain may be a problem, presumably because of the involvement of the cutaneous nerve.[4] Contractures, osteoporosis, and other bony changes are commonly seen. Raised erythrocyte sedimentation rate (ESR), hypergammaglobulinemia, and eosinophilia are frequently associated with this condition. We present a case of adult-onset[5] pansclerotic morphea with sparing of the face in a previously healthy individual.

Case Report

A 26-year-old male patient presented with history of intermittent arthralgia since 2 years. There was history of progressive tightening of the skin of the left upper extremity, starting distally and extending proximally, over a period of 5 months [Figure 1]. Within a few months of the onset, painful contracture deformities of the hand, elbow, and shoulder joints developed, impairing the patient's normal daily activities. The head, neck, face, and torso were completely spared. There was no personal or family history of autoimmune or connective tissue disease. There was history of trauma 12 years back. There was no history of Raynaud phenomenon or any systemic symptoms.

Figure 1

Binding down of skin

On physical examination, there was binding down of the skin over the entire left extremity, with a claw-like contracture deformity of the fingers and flexion deformities of the elbow and shoulder of the affected side [Figure 2]. The mid-arm circumference over the normal upper limb was 23 cm, whereas it was only 17 cm on the affected upper limb. Hematological parameters were normal. The ESR was raised. Antinuclear antibody, rheumatoid factor, and Antistreptolysin O titer were negative. We could not perform serological tests for Borrelia burgdorferi infection because of lack of facilities. Other hematological parameters were within normal limits.

Figure 2

Pretreatment contracture on the left side

Chest X-ray, barium swallow, and pulmonary function tests were normal. Radiological examination of the affected part showed soft tissue atrophy of the entire left upper extremity, diffuse osteoporosis, and deformation of the affected bones, with arthritic changes [Figure 3]. Skin biopsy showed loss of the rete ridges. The dermis was thicker than normal. Collagen bundles were thickened and a chronic inflammatory infiltrate was seen scattered in the periadnexal area.

Figure 3

X-ray of affected limb showing osteoporosis

The patient was started on systemic corticosteroids and methotrexate. There was rapid relief in pain and increase in range of movements of the limb [Figure 4].

Figure 4

Post-treatment improvement at the affected site

Discussion

Till today the classification of DPM is controversial. Some authors consider it as the most severe variant of linear scleroderma, while other authors classify it as deep morphea due to the involvement of all structures overlying the bone (and sometimes even the bone).[5]

It is important to differentiate between the aggressive form of localized scleroderma and progressive systemic sclerosis. The presence of sclerodactyly, with characteristic sparing of the tip of the fingers and absence of Raynaud phenomenon, are findings that help us to differentiate between the two.[6] In our patient there was history of trauma in childhood, but the arthralgia and binding down of skin had started only in adulthood. In between, the patient had been completely normal. It has been reported that localized morphea following trauma is rare in adults.[7]

According to literature the long-term prognosis of DPM is poor. The most common complications observed in DPM patients are generalization of cutaneous sclerosis; irreversible ankylosis; extension of lesions to involve the face; secondary mutilation due to scarring; alopecia; ectropion; spontaneous amputation of ears; dental malpositions; osteolysis, with distal amputations of phalanges; cachexia; transformation into systemic sclerosis; development of cutaneous trophic ulcers, with superinfection and possible septicemia; neurocompressive syndromes; and development of squamous cell carcinoma.

At present there is no standard treatment strategy for the management of pansclerotic morphea. None of the existing therapies arrest the progress of the disease.[6] It is found that combined treatment with methylprednisolone, methotrexate, and phototherapy (with Ultraviolet A) is more effective than monotherapy. Steroid pulse therapy can be considered in the highly active phase of the disease for its anti-inflammatory and immunosuppressive effects, less side effects seen with pulse therapy than with long-term corticosteroid therapy.

Methotrexate is assumed to inhibit the synthesis of pro-inflammatory cytokines (IL-2, 4, 6, and 8) and the fibrotic process. If used alone as monotherapy, it has a less marked effect on the course of the disease.[6] The use of low doses of methotrexate along with pulse-therapy with methylprednisolone has the most favorable risk/benefit ratio.[68]

Phototherapy with UVA has anti-inflammatory, immunosuppressive, and antifibrotic effects; it acts by induction of collagenases, synthesis of defensins, and induction of lymphocyte apoptosis.[3]

Other drugs that can be considered for the treatment of morphea are antimalarials, colchicine, cyclosporine, tacrolimus, penicillamine, intravenous immunoglobulins, interferon-gamma, and recombinant human relaxin.[6] Newer drugs that have been recently tested, but for which confirmation in large clinical studies are still awaited, include sildenafil, a specific phosphodiesterase type 5 inhibitor that determines an increase of nitric oxide,[9] and bosentan, an endothelin receptor antagonist, that has been recently reported to have beneficial effects in the ulcerative forms of DPM.[610] Targeting the transforming growth factor-beta (TGF-β), a key mediator of fibroblasts activation and tissue fibrosis, may also be a promising strategy, as has been shown by in vitro studies.[611]

What is new?

Adult onset of disabling pansclerotic morphea after trauma in childhood and responding to combination therapy of methotrexate and systemic corticosteroid.