Disabling pansclerotic morphoea: a century of discovery.

BACKGROUND

Disabling pansclerotic morphoea (DPM) is a rare systemic inflammatory disorder at the severe end of the localized scleroderma spectrum. It primarily affects children < 14 years old. DPM is characterized by rapid sclerosis with circumferential involvement that frequently extends to the fascia, muscle and bone. Disease progression often involves the development of sclerotic plaques, chronic skin ulcers and painful joint contractures, leading to patient immobility and a high mortality rate. Internal organ fibrosis is typically absent. The aggressive and systemic nature of DPM leads patients to seek multidisciplinary care. Current treatments are targeted toward immunomodulation and measures to preserve mobility while limiting infection, but they often have limited efficacy.

OBJECTIVES

To summarize all patients with DPM reported in the English-language literature, common clinical symptoms, laboratory investigations and treatments reported to date.

METHODS

A literature search was conducted on PubMed and Google Scholar. All English-language original articles, case reports, abstracts and letters to the editor were included. Each publication was reviewed for diagnosis, clinical presentation, available laboratory/histological studies, treatment and outcome.

RESULTS

We identified 52 reports comprising 86 patients published up to December 2023. Assessment of published cases suggested that the number of treatments does not influence disease outcome and that female patients are younger at the time of reported death.

CONCLUSIONS

Clinician familiarity and awareness of common DPM symptoms are important for an accurate and early diagnosis. Knowledge of treatments that have been reported to be effective in mitigating disease progression may be helpful in expanding the available treatment options.