Track: Case Reports

Abstract:

Pansclerotic morphea is a rare, aggressive variant of scleroderma that predominantly affects children and adolescents. We present a 13-year-old male with limb tightness and progressive widespread skin thickening over 2-3 years duration with involvement of the face, neck, trunk, and extremities. Pertinent medical history includes celiac disease, well-controlled with a gluten-free diet since five years old. Physical exam revealed a dry, tight, shiny appearance in affected areas of his skin, with a yellow/golden discoloration. A punch biopsy from the dorsal ulnar hand demonstrated marked sclerosis of dermal collagen with involvement of the subcutis. Atrophy of adnexal structures and a paucity of periadnexal adipocytes were also appreciated. The histology was consistent with morphea; given the extensive clinical distribution and the lack of extracutaneous/systemic involvement (i.e. Raynaud phenomenon, sclerodactyly, internal organ dysfunction), the patient was diagnosed with pansclerotic morphea. Initial treatment with the standard drug, methotrexate, was poorly tolerated. Clinical improvement was achieved using a treatment regimen of a six-month tapering course of prednisone in addition to long-term use of mycophenolate mofetil, tocilizumab, and physical therapy. This case both highlights histologic features and underscores the importance of clinicopathologic correlation in the diagnosis of pansclerotic morphea – a rarer diagnostic subset within the spectrum of scleroderma, which is already a rare autoimmune disease in the pediatric setting. Moreover, the concurrent diagnosis of celiac disease in a patient with pansclerotic morphea features an unusual and undocumented autoimmune overlap and raises consideration for investigation into possible associations between these two conditions.

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Barbara Ostrov