MedGen

Disabling pansclerotic morphea of childhood is the most severe subtype of deep morphea within the spectrum of juvenile localized scleroderma. Patients affected by this systemic inflammatory disorder experience poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene (Baghdassarian et al., 2023). [from OMIM]

Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. [from MONDO]