Autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome (AIPDSA) is characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing. Laboratory studies show leukocytosis, neutrophilia, and elevated inflammatory markers, such as C-reactive protein (CRP; 123260). There are no signs of immunodeficiency, and infectious organisms are not detected, although secondary skin or respiratory infections may occur. Treatment with TNF (191160) blockers is usually effective (Davidson et al., 2024; Takeda et al., 2024). [from OMIM]

Diagnosis