Disabling pansclerotic morphea involves all layers of the skin, extending through the dermis and subcutaneous tissues to involve muscle, tendon, and bone. It is distinguished from generalized scleroderma by its lack of systemic involvement. Onset usually occurs before the age of 14 years. We describe adult-onset disabling pansclerotic morphea in two previously healthy young men. In both cases, the onset of disease was explosive, with rapid progression, widespread cutaneous involvement, and severe disablement caused by mutilating contracture deformities. Increased susceptibility of sclerodermatous tissue to recalcitrant ulceration and malignant transformation with development of nonmelanoma skin cancers was also observed. Treatment of this disease continues to present a therapeutic dilemma with only sporadic remission despite multimodality therapy.
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Disabling Pansclerotic Morphea: A century of discovery.
Br J Dermatol
November 2024
Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of California-San Diego, La Jolla, CA, USA.
Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder at the severe end of the localized scleroderma spectrum which primarily affects children under 14 years of age. The disease is characterized by rapid sclerosis with circumferential involvement that frequently extends to the fascia, muscle, and bone. Disease progression often involves development of sclerotic plaques, chronic skin ulcers, and painful joint contractures leading to patient immobility with a high mortality rate.
View Article and Find Full Text PDFUpdate on autoinflammatory diseases.
Curr Opin Rheumatol
September 2023
Division of Immunology, Rheumatology Program, Department of Medicine, Boston Children's Hospital, Pediatrics, Harvard Medical School.
Purpose Of Review: Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim to discuss novel SAIDs and autoinflammatory pathways discovered in the last couple of years.
Recent Findings: Advances in immunology and genetics have led to the discovery of new pathways involved in autoinflammation, as well as several new SAIDs, including retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH syndrome), vacuoles, E1 enzyme, X-linked autoinflammatory somatic (VEXAS) syndrome, TBK1 deficiency, NEMO deleted exon 5 autoinflammatory syndrome (NDAS), and disabling pansclerotic morphea.
Variant and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
June 2023
From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.).
Background: Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high.
Methods: We evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance of DPM.
Treatment in Juvenile Scleroderma.
Curr Rheumatol Rep
June 2020
Department of Woman's and Child's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy.
Purpose Of Review: Treatment of scleroderma in children is challenging since little is known about its pathogenesis. Herein, we review the most recent evidence regarding the treatment of juvenile scleroderma.
Recent Findings: According to the recent recommendations for Pediatric Rheumatology in Europe (SHARE), systemic treatment in localized scleroderma is needed when there is a risk for disability, such as in generalized or pansclerotic morphea and progressive linear scleroderma.
Challenges in the diagnosis and treatment of disabling pansclerotic morphea of childhood: case-based review.
Rheumatol Int
May 2019
Paediatric Rheumatology Unit, The Royal Children's Hospital, Parkville, VIC, Australia.
Article Synopsis
- Disabling pansclerotic morphea of childhood (DPMC) is a rare and aggressive form of juvenile localized scleroderma affecting primarily children under 14, leading to severe complications such as joint contractures and skin ulceration.
- Over a 29-month treatment period, a 5-year-old boy with refractory DPMC showed some improvement with prednisolone and mycophenolate mofetil (MMF), while other therapies like biologics and tyrosine kinase inhibitors proved ineffective, ultimately leading to a referral for a stem cell transplant.
- A literature review found that common treatments include methotrexate and corticosteroids, with MMF having anecdotal success; however, many patients end up needing intensive, multi-modal immun
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