PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Background: Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" is a rare autoinflammatory disease with variable express...
| Publicado en: | Italian Journal of Pediatrics Vol. 45; no. 1 |
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| Autores principales: | , , , , |
| Formato: | case study Journal Article |
| Publicado: |
BioMed Central
8/23/2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=138226180&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 138226180 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 17208424 1D4R jtl: Italian Journal of Pediatrics issn: 17208424 maglogo: N pubinfo: dt: 8/23/2019 vid: 45 iid: 1 pid: 24147 pub: BioMed Central artinfo: ui: 138226180 138226180 138226180 10.1186/s13052-019-0705-z 138226180 ppct: 1 formats: tig: atl: PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report. aug: au: Maggio, Maria Cristina Ceccherini, Isabella Grossi, Alice Gattorno, Marco Corsello, Giovanni affil: Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities "G. D'Alessandro", University of Palermo, Palermo, Italy sug: subj: Arthritis, Infectious Familial and Genetic Acne Vulgaris Familial and Genetic Pyoderma Gangrenosum Familial and Genetic Hereditary Autoinflammatory Diseases Familial and Genetic Siblings Child Adolescence Male Recurrence Fever Stomatitis, Aphthous Abdominal Pain Arthritis Dermatitis Hand Pathology Aspartate Aminotransferase Alanine Aminotransferase C-Reactive Protein Blood Sedimentation Amyloids Blood Communicable Diseases Mevalonate Kinase Deficiency Mutation Severity of Illness Arthralgia Extremities Pathology Colchicine Sequence Analysis Mothers Fathers Antibodies, Monoclonal Genotype Phenotype Acne Vulgaris Diagnosis Arthritis, Infectious Diagnosis Pyoderma Gangrenosum Diagnosis Hereditary Autoinflammatory Diseases Diagnosis Child: 6-12 years Adolescent: 13-18 years Male ab: Background: Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. "Pyogenic arthritis, pyoderma gangrenosum and acne syndrome" is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation: We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid A, leucocytosis with neutrophilia. Infectious diseases were excluded. The genetic study for Familial Mediterranean Fever, tumor necrosis factor receptor-associated periodic syndrome, Mevalonate kinase deficiency, showed the homozygous mutation p.M680I of exon 10 in MEFV. Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. Both the patients started colchicine, with an improvement in clinical manifestations and a reduction of serum amyloid A. For the atypical dermatologic signs present in the two siblings and in the father, the study of other autoinflammatory syndromes was performed with next generation sequencing and showed the heterozygous rare missense mutation of unknown significance: p.(Val408Ile) of PSTPIP1 gene in the two siblings and in the mother, the father was negative. Canakinumab treatment was started in the younger patient, with the resolution of the clinical symptoms and the normalization of serum amyloid A. Conclusions: Further studies are needed to better describe the correlation between genotype and phenotype in patients with PAPA syndrome and with PAPA syndrome associated with FMF, considering that the presence of mutations in both genes may amplify clinical presentation and evolution of both diseases. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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