title: Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle.
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.
authors: Claudia
authors: C
authors: Pasqualini
authors: Mauro
authors: M
authors: Jorini
authors: Ines
authors: I
authors: Carloni
authors: Mirella
authors: M
authors: Giangiacomi
authors: Valentina
authors: V
authors: Cetica
authors: Maurizio
authors: M
authors: Aricò
authors: Department of Mother and Child Health, Azienda Ospedaliero-Universitaria, Ancona, Italy. debenedictis@ospedaliriuniti.marche.it.
authors: Fernando Maria
authors: FM
authors: de Benedictis
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis*; D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics; D016399:Lymphoma, T-Cell / Q000175:diagnosis*; D008297:Male; D015434:Panniculitis / Q000175:diagnosis*; D012867:Skin / Q000473:pathology*