Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations

Citation
Jr. Toro et al., Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations, ARCH DERMAT, 136(12), 2000, pp. 1487-1494
Citations number
74
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Dermatology,"da verificare
Journal title
ARCHIVES OF DERMATOLOGY
ISSN journal
0003-987X → ACNP
Volume
136
Issue
12
Year of publication
2000
Pages
1487 - 1494
Database
ISI
SICI code
0003-987X(200012)136:12<1487:TNFRPS>2.0.ZU;2-T
Abstract
Background: Tumor necrosis factor receptor-associated periodic syndrome (TR APS) is an inflammatory disorder characterized by prolonged episodes of per iodic fever and localized inflammation and dominantly inherited mutations i n TNFRSF1A, the gene encoding the 55-kDa tumor necrosis factor receptor. To our knowledge, the cutaneous pathologic characteristics of TRAPS have not been described previously. Objectives: To characterize the dermatologic manifestations of TRAPS by cli nical, microscopic, and molecular methods, and to investigate its immunophe notype. Design, getting, and Patients: At the National Institutes of Health Clinica l Center, Bethesda, Md, a tertiary care referral center, 25 patients with a clinical and molecular diagnosis of TRAPS were evaluated clinically and 10 biopsy specimens of lesional skin were examined by light microscopy and im munohistochemistry. Patients were screened for mutations in TNFRSF1A, the g ene coding for the p55 tumor necrosis factor receptor. Main Outcome Measures: Clinical, light microscopic, and immunohistochemical features. Results: The skin eruption usually lasted 4 to 21 days (mean, 13 days). Of 25 patients, 21 (84%) presented with migratory erythematous macules and pat ches and 10 (40%) had edematous dermal plaques. Conjunctivitis, characteriz ed by pain and redness and/or periorbital edema, was present in 11 patients (44%). Most patients had their first skin eruption during the first 2 year s of life. All patients had fever associated with the skin eruption. Most p atients had associated abdominal pain (22 [88%]) and myalgia (20 [80%]). Ot her symptoms included arthralgia (13 [52%]), pleuritic chest pain (10 [40%] ), and headache (17 [68%]). Microscopic examination of 10 biopsy specimens of lesional skin showed a superficial and deep perivascular and interstitia l infiltrate of lymphocytes and monocytes. None of the biopsy specimens sho wed multinucleated macrophages or granulomatous or leukocytoclastic vasculi tis. The results of immunohistochemistry showed a perivascular infiltrate o f CD3+, CD4+, CD8+, CD68+, CD79a-, and CD20- cells. All the mutations were missense mutations in exons 2 through 4 of TNFRSF1A, directly affecting the extracellular domain of the protein. Conclusions: TRAPS is characterized by a spectrum of dermatologic findings, including migratory patches, edematous plaques, periorbital edema, and/or conjunctivitis. TRAPS is characterized by a perivascular dermal infiltrate of lymphocytes and monocytes.