Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle

Claudia Pasqualini,Valentina Cetica,Ines Carloni,Fernando Maria De Benedictis,Mauro Jorini,Mirella Giangiacomi,Maurizio Aricò,

doi:10.1186/1824-7288-40-17

Abstract

Cytophagic histiocytic panniculitis is a rare disease, associated with either nonmalignant conditions or subcutaneous panniculitis-like T-cell lymphoma, and often also associated with hemophagocytic lymphohistiocytosis (HLH). We report the case of a 11-year-old boy with a history of secondary HLH who, after a local trauma, developed a painful, indurated plaque over the right thigh associated with relapsing HLH. Histopathologic findings from skin biopsy specimens revealed significant lobular panniculitis with benign histiocytes showing hemophagocytosis. High-dose intravenous methylprednisolone and cyclosporine A treatment was highly effective. A genetic study after a new, relapsing episode of HLH revealed an heterozygous missense mutation on STX 11 gene inherited from the mother.

Highlights

Cytophagic histiocytic panniculitis (CHP) is a rare disease, first described in 1980, characterized by infiltration of subcutaneous adipose tissue by benign-appearing T lymphocytes and phagocytic histiocytes (“bean bag cells”) [1]
CHP may be an isolated skin disease or associated with nonmalignant conditions, such as infections, as well as malignancies, including subcutaneous panniculitis-like T-cell lymphoma (SPTL), a rare form of non-Hodgkin lymphoma infiltrating into subcutaneous adipose tissue [2]
Subcutaneous panniculitis has been reported in a small number of patients with hemophagocytic lymphohistiocytosis (HLH), a life threatening condition characterized by uncontrolled activation and proliferation of T-cells resulting in hypercytokinemia, proliferation of histiocytes and hemophagocytosis [3,4]