TY - JOUR
T1 - Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood
AU - Auricchio, Luigi
AU - Vitiello, Laura
AU - Adriani, Marsilio
AU - Ferri, Pasqualina
AU - Chiocchetti, Annalisa
AU - Pettinato, Guido
AU - Racioppi, Luigi
AU - Maiuri, Luigi
AU - Dianzani, Umberto
AU - Pignata, Claudio
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - Autoimmune lymphoproliferative syndrome
KW - Erythematopapular rash
KW - Lymphoplasmacellular infiltrate
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U2 - 10.1159/000084762
DO - 10.1159/000084762
M3 - Article
C2 - 15942224
AN - SCOPUS:22144449260
VL - 210
SP - 336
EP - 340
JO - Dermatology
JF - Dermatology
SN - 1018-8665
IS - 4
ER -