UC San Diego

Disabling Pansclerotic Morphea (DPM) is a rare fibrotic skin disorder that is characterized by rapid sclerosis in all skin layers, fascia, muscle, and bone. This disease primarily affects children under 14 years of age and has an unknown etiology. Diagnosis of DPM is largely dependent on recognition of clinical features and current treatment options are nonspecific. To determine the current state of knowledge of DPM, we conducted a literature review to identify all published cases of disease. This is the first study to summarize all DPM patients reported in the literature and the collective information will function as a valuable resource for both clinicians and scientists who are seeking more information about this disease. Our findings revealed that patients typically present with prominent skin findings accompanied by various extracutaneous complications which contribute to morbidity and mortality. Additionally, patient responses to current treatment options are inconsistent. Given the rarity of the disease and limited understanding of its pathophysiology, we attempted to define the etiology underlying DPM through use of primary human cell lines, and evaluation of wound healing by an in vitro scratch assay. Results from our optimization experiments show that scratching at a 45° angle decreases interexperiment variability. Finally, we have proposed experiments that will examine the inherent disease features on elements of fibroblast biology including inflammatory gene transcription and cell morphology. We believe results from these experiments will help unveil the molecular basis of DPM and aid in the identification of a more specific therapy for these patients.