Faculty Collaboration Database

Paraneoplastic pemphigus in children and adolescents. Br J Dermatol 2002 Oct;147(4):725-32

Date

10/09/2002

Pubmed ID

12366419

DOI

10.1046/j.1365-2133.2002.04992.x

Scopus ID

2-s2.0-0036404777 (requires institutional sign-in at Scopus site)   157 Citations

Abstract

BACKGROUND: Paraneoplastic pemphigus (PNP) is an autoimmune mucocutaneous disease associated with specific B-cell lymphoproliferative neoplasms. There has been an increasing number of individual reports in the childhood and adolescent population.

OBJECTIVES: To examine the clinical and immunopathological features of PNP occurring in children and adolescents.

PATIENTS AND METHODS: We analysed the clinical and immunopathological findings of 14 patients under the age of 18 years with a confirmed diagnosis of PNP. Sera from all patients were analysed by indirect immunofluorescence (IF) and immunoprecipitation for plakin autoantibodies, immunoblotting for detection of plectin autoantibodies, and enzyme-linked immunosorbent assay (ELISA) for the detection of desmoglein (Dsg) 1 and Dsg3 autoantibodies.

RESULTS: Severe oral mucositis was observed in all patients, and lichenoid cutaneous lesions in eight of 14 patients. The average age at presentation was 13 years. Striking findings included: pulmonary destruction leading to bronchiolitis obliterans in 10 patients, association with Castleman's disease in 12 patients, and a fatal outcome in 10 patients. The underlying neoplasm was occult in 10 patients. Histological findings include lichenoid and interface dermatitis with variable intraepithelial acantholysis. Deposition of IgG and C3 in the mouth and skin by direct IF was not found in some cases, but indirect IF detected IgG autoantibodies in all cases. Immunoprecipitation revealed IgG autoantibodies against desmoplakin I, envoplakin and periplakin in all cases, and against desmoplakin II and the 170-kDa antigen in 13 and 10 patients, respectively. Dsg3 and Dsg1 autoantibodies were present in 10 and three patients, respectively, and plectin autoantibodies in 13 patients.

CONCLUSIONS: PNP in children and adolescents is most often a presenting sign of occult Castleman's disease. It presents with severe oral mucositis and cutaneous lichenoid lesions. Serum autoantibodies against plakin proteins were the most constant diagnostic markers. Pulmonary injury appears to account for the very high mortality rates observed.

Author List

Mimouni D, Anhalt GJ, Lazarova Z, Aho S, Kazerounian S, Kouba DJ, Mascaro JM Jr, Nousari HC

MESH terms used to index this publication - Major topics in bold

Adolescent
Autoantibodies
Biomarkers
Castleman Disease
Child
Cytoskeletal Proteins
Desmoglein 1
Desmogleins
Desmoplakins
Female
Fluorescent Antibody Technique, Indirect
Humans
Male
Membrane Proteins
Mouth Mucosa
Paraneoplastic Syndromes
Pemphigus
Plakins
Protein Precursors
Stomatitis