Miria Paula V Cavalcante1,2, Juliana B Brunelli2, Clarissa C Miranda2, Glaucia V Novak2, Louise Malle3, Nadia E Aikawa2,3, Adriana A Jesus3, Clovis Artur Silva4,5. 1. Pediatric Rheumatology Unit, Pediatric Department, Hospital Geral de Fortaleza, Ceará, Brazil. 2. Pediatric Rheumatology Unit, Pediatric Department, Faculdade de Medicina da Universidade São Paulo, São Paulo, Brazil. 3. National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA. 4. Pediatric Rheumatology Unit, Pediatric Department, Hospital Geral de Fortaleza, Ceará, Brazil. clovisaasilva@gmail.com. 5. , Av. Dr. Eneas Carvalho Aguiar, 647 - Cerqueira César, São Paulo - SP, Brazil, 05403-000. clovisaasilva@gmail.com.
Abstract
UNLABELLED: We described herein a patient with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and a novel mutation in PSMB8 gene. This patient had multiple visceral inflammatory involvements, including rare manifestations, such as Sweet syndrome and pericarditis. A 3-year-old male, Caucasian, was born to consanguineous healthy parents. At the age of 11 months, he presented daily fever (temperature >40 °C), irritability, hepatomegaly, splenomegaly; and tender and itching, erythematous papular and edematous plaque lesions. Echocardiogram showed mild pericarditis. Skin biopsy revealed a neutrophil infiltrate without vasculitis suggesting Sweet syndrome. Mutational screening of PSMB8 gene revealed homozygous c.280G>C, p.A94P mutation. He responded partially to high doses of oral glucorticoid and intravenous methylprednisolone. Colchicine, azathioprine, methotrexate, cyclosporine, and intravenous immunoglobulin were not efficacious. At the age of 3 years and 1 month, tocilizumab was administered resulting in remission of daily fever and irritability. However, there was no improvement of the skin tenderness and itching lesions. CONCLUSION: A new mutation in a CANDLE syndrome patient was reported with pericarditis and mimicking Sweet syndrome. The disease manifestations were refractory to immunosuppressive agents and partially responsive to tocilizumab therapy. WHAT IS KNOWN: • Proteasome-associated autoinflammatory syndromes (PRAAS) include four rare diseases. • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was seldom reported. What is New: • We described a Brazilian patient with CANDLE syndrome possessing a novel mutation in the PSMB8 gene. • This patient had multiple visceral inflammatory involvements, including rare manifestations, such as pericarditis and mimicking Sweet syndrome.
UNLABELLED: We described herein a patient with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and a novel mutation in PSMB8 gene. This patient had multiple visceral inflammatory involvements, including rare manifestations, such as Sweet syndrome and pericarditis. A 3-year-old male, Caucasian, was born to consanguineous healthy parents. At the age of 11 months, he presented daily fever (temperature >40 °C), irritability, hepatomegaly, splenomegaly; and tender and itching, erythematous papular and edematous plaque lesions. Echocardiogram showed mild pericarditis. Skin biopsy revealed a neutrophil infiltrate without vasculitis suggesting Sweet syndrome. Mutational screening of PSMB8 gene revealed homozygous c.280G>C, p.A94P mutation. He responded partially to high doses of oral glucorticoid and intravenous methylprednisolone. Colchicine, azathioprine, methotrexate, cyclosporine, and intravenous immunoglobulin were not efficacious. At the age of 3 years and 1 month, tocilizumab was administered resulting in remission of daily fever and irritability. However, there was no improvement of the skin tenderness and itching lesions. CONCLUSION: A new mutation in a CANDLE syndrome patient was reported with pericarditis and mimicking Sweet syndrome. The disease manifestations were refractory to immunosuppressive agents and partially responsive to tocilizumab therapy. WHAT IS KNOWN: • Proteasome-associated autoinflammatory syndromes (PRAAS) include four rare diseases. • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome was seldom reported. What is New: • We described a Brazilian patient with CANDLE syndrome possessing a novel mutation in the PSMB8 gene. • This patient had multiple visceral inflammatory involvements, including rare manifestations, such as pericarditis and mimicking Sweet syndrome.
Authors: Yin Liu; Yuval Ramot; Antonio Torrelo; Amy S Paller; Nuo Si; Sofia Babay; Peter W Kim; Afzal Sheikh; Chyi-Chia Richard Lee; Yongqing Chen; Angel Vera; Xue Zhang; Raphaela Goldbach-Mansky; Abraham Zlotogorski Journal: Arthritis Rheum Date: 2012-03
Authors: Antonio Torrelo; Sapna Patel; Isabel Colmenero; Dolores Gurbindo; Francisco Lendínez; Angela Hernández; Juan Carlos López-Robledillo; Ali Dadban; Luis Requena; Amy S Paller Journal: J Am Acad Dermatol Date: 2010-03 Impact factor: 11.527
Authors: Anja Brehm; Yin Liu; Afzal Sheikh; Bernadette Marrero; Ebun Omoyinmi; Qing Zhou; Gina Montealegre; Angelique Biancotto; Adam Reinhardt; Adriana Almeida de Jesus; Martin Pelletier; Wanxia L Tsai; Elaine F Remmers; Lela Kardava; Suvimol Hill; Hanna Kim; Helen J Lachmann; Andre Megarbane; Jae Jin Chae; Jilian Brady; Rhina D Castillo; Diane Brown; Angel Vera Casano; Ling Gao; Dawn Chapelle; Yan Huang; Deborah Stone; Yongqing Chen; Franziska Sotzny; Chyi-Chia Richard Lee; Daniel L Kastner; Antonio Torrelo; Abraham Zlotogorski; Susan Moir; Massimo Gadina; Phil McCoy; Robert Wesley; Kristina I Rother; Kristina Rother; Peter W Hildebrand; Paul Brogan; Elke Krüger; Ivona Aksentijevich; Raphaela Goldbach-Mansky Journal: J Clin Invest Date: 2015-10-20 Impact factor: 14.808
Authors: Adriana A Jesus; Erika Fujihira; Mariana Watase; Maria T Terreri; Maria O Hilario; Magda Carneiro-Sampaio; Claudio A Len; Sheila K Oliveira; Marta C Rodrigues; Rosa M Pereira; Blanca Bica; Nilzio A Silva; Andre Cavalcanti; Roberto Marini; Flavio Sztajnbok; Maria V Quintero; Virginia P Ferriani; Dewton Moraes-Vasconcelos; Clovis A Silva; Joao B Oliveira Journal: J Clin Immunol Date: 2012-05-08 Impact factor: 8.317
Authors: T Roberts; L Stephen; C Scott; T di Pasquale; A Naser-Eldin; M Chetty; S Shaik; L Lewandowski; P Beighton Journal: Head Face Med Date: 2015-12-28 Impact factor: 2.151