Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood.
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.
Auricchio
Luigi
L
Department of Dermatology, Federico II University, Naples, Italy.
Vitiello
Laura
L
Adriani
Marsilio
M
Ferri
Pasqualina
P
Chiocchetti
Annalisa
A
Pettinato
Guido
G
Racioppi
Luigi
L
Maiuri
Luigi
L
Dianzani
Umberto
U
Pignata
Claudio
C
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