title: Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood.
abstract: Autoimmune lymphoproliferative syndrome is a disorder due to a defect of lymphocyte apoptosis, whose clinical manifestations consist of hyperplasia of lymphoid tissues and autoimmune diseases. We report on a 26-month-old child who presented with frequent eruptions of weals and angioedema without any apparent triggering factor, who subsequently developed an erythematopapular rash with a histological pattern of a lymphoplasmacellular infiltrate. Familial anamnesis revealed a history of lymphoadenomegaly and massive spleen and liver enlargement in her sister. Functional and molecular analysis led to a diagnosis of type 1a autoimmune lymphoproliferative syndrome. Immunophenotyping of the cutaneous lesion revealed the presence of an inflammatory infiltrate with a considerably high number of Langerhans cells. Cutaneous features such as urticaria, angioedema and vasculitis in children with a personal and familial history of hyperplasia of lymphoid tissues may be a presenting sign of a systemic disease, such as autoimmune lymphoproliferative syndrome.
authors.affiliation: Department of Dermatology, Federico II University, Naples, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Auricchio
authors.forename: Laura
authors.initials: L
authors.lastname: Vitiello
authors.forename: Marsilio
authors.initials: M
authors.lastname: Adriani
authors.forename: Pasqualina
authors.initials: P
authors.lastname: Ferri
authors.forename: Annalisa
authors.initials: A
authors.lastname: Chiocchetti
authors.forename: Guido
authors.initials: G
authors.lastname: Pettinato
authors.forename: Luigi
authors.initials: L
authors.lastname: Racioppi
authors.forename: Luigi
authors.initials: L
authors.lastname: Maiuri
authors.forename: Umberto
authors.initials: U
authors.lastname: Dianzani
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
mesh_terms: D000799:Angioedema / Q000175:diagnosis / Q000276:immunology / Q000473:pathology*; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000276:immunology / Q000473:pathology*; D001707:Biopsy, Needle; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000276:immunology / Q000473:pathology*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013577:Syndrome