Challenges in the diagnosis and treatment of disabling pansclerotic morphea of childhood: case-based review.

Abstract

Disabling pansclerotic morphea of childhood (DPMC) is a rare subtype of juvenile localized scleroderma (JLS) characterized by pansclerosis mainly affecting children under the age of 14. This aggressive disease has a poor prognosis due to the rapid progression of deep musculoskeletal atrophy resulting in cutaneous ulceration and severe joint contractures. We describe the challenges in treating a previously well 5-year-old male who has refractory symptoms of DPMC. Over the 29 months, since his initial presentation, we trialed over ten therapies. There was subjective improvement with prednisolone and mycophenolate mofetil (MMF). However, other therapies including biologics and tyrosine kinase inhibitors (TKI) were ineffective. The patient has been referred for hematopoietic stem cell transplant given ongoing disease progression. We conducted a literature search focusing on English articles with keywords including DPMC. Publications with limited information or describing cases aged 20 and above were excluded. Thirty-seven case reports were identified and the reported treatments were evaluated. Methotrexate and corticosteroids have been the most commonly utilized. MMF has been anecdotally effective. Biologics, TKI, and Janus kinase inhibitors lack evidence in DPMC, but have had demonstrated efficacy in similar pathologies including systemic sclerosis, and, thus, have been used for DPMC. Phototherapy has been documented to be reducing skin thickness and stiffness of plaques. Eventually, most children require multi-modal and high-dose immunosuppressive therapies to reduce the inflammation inflicted by the disease. Long-term antibiotics and nutritional support are important in the ongoing care of these patients.

• Authors: Han Jie Soh, Courtney Samuel, Victoria Heaton, William Douglas Renton, Angela Cox, Jane Munro
• Journal: Rheumatology international (Rheumatol Int) Vol. 39 Issue 5 Pg. 933-941 (05 2019) ISSN: 1437-160X [Electronic] Germany
• PMID: 30838436 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Antirheumatic Agents
• Biological Products
• Immunoglobulins, Intravenous
• Immunologic Factors
• Immunosuppressive Agents
• Janus Kinase Inhibitors
• Protein Kinase Inhibitors
• Hydroxychloroquine
• Prednisolone
• Mycophenolic Acid
• Methylprednisolone

Topics

• Antirheumatic Agents (therapeutic use)
• Biological Products (therapeutic use)
• Biopsy
• Child, Preschool
• Contracture (physiopathology)
• Edema (physiopathology)
• Hematopoietic Stem Cell Transplantation
• Humans
• Hydroxychloroquine (therapeutic use)
• Immunoglobulins, Intravenous (therapeutic use)
• Immunologic Factors (therapeutic use)
• Immunosuppressive Agents (therapeutic use)
• Janus Kinase Inhibitors (therapeutic use)
• Male
• Methylprednisolone (therapeutic use)
• Mycophenolic Acid (therapeutic use)
• Prednisolone (therapeutic use)
• Protein Kinase Inhibitors (therapeutic use)
• Scleroderma, Localized (diagnosis, pathology, physiopathology, therapy)
• Scleroderma, Systemic (diagnosis, pathology, physiopathology, therapy)
• Skin (pathology)
• Synovitis (physiopathology)
• Treatment Failure
• Treatment Outcome