The objective of this study was to develop EULAR/ACR classification criteria for polymyalgia rheumatica (PMR). Candidate criteria were evaluated in a 6-month prospective cohort study of 125 patients with new onset PMR and 169 non-PMR comparison subjects with conditions mimicking PMR. A scoring algorithm was developed based on morning stiffness >45 minutes (2 points), hip pain/limited range of motion (1 point), absence of RF and/or ACPA (2 points), and absence of peripheral joint pain (1 point). A score ≥4 had 68% sensitivity and 78% specificity for discriminating all comparison subjects from PMR. The specificity was higher (88%) for discriminating shoulder conditions from PMR and lower (65%) for discriminating RA from PMR. Adding ultrasound, a score ≥5 had increased sensitivity to 66% and specificity to 81%. According to these provisional classification criteria, patients ≥50 years old presenting with bilateral shoulder pain, not better explained by an alternative pathology, can be classified as having PMR in the presence of morning stiffness>45 minutes, elevated CRP and/or ESR and new hip pain. These criteria are not meant for diagnostic purposes.

We report on a mother and son who were affected with split hand‐split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow‐growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis Imperfecta (hypocalcification, hypoplasia, and hypomaturation types), in the primary and permanent dentition. An unerupted supernumerary maxillary second premolar and fusion of mandibular incisors were observed in the primary dentition and their permanent successors. Mutation analysis showed a c.588‐2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleotides in the transcript and thus incorporation of a single extra amino acid (p.Thr195_Tyr196insPro). This is the first time that amelogenesis imperfecta, fusion of teeth, and a supernumerary premolar have been shown to be associated with a TP63 mutation. © 2011 Wiley Periodicals, Inc.

Objective. To prospectively evaluate the disease course and the performance of clinical, patient-reported outcome (PRO) and musculoskeletal ultrasound measures in patients with polymyalgia rheumatica (PMR). Methods. The study population included 85 patients with new-onset PMR who were initially treated with prednisone equivalent dose of 15 mg daily tapered gradually, and followed for 26 weeks. Data collection included physical examination findings, laboratory measures of acute-phase reactants, and PRO measures. Ultrasound evaluation was performed at baseline and Week 26 to assess for features previously reported to be associated with PMR. Response to corticosteroid treatment was defined as 70% improvement in PMR on visual analog scale (VAS). Results. At baseline, 77% had hip pain in addition to shoulder pain and 100% had abnormal C-reactive protein or erythrocyte sedimentation rate. On ultrasound, 84% had shoulder findings and 32% had both shoulder and hip findings. Response to corticosteroid treatment occurred in 73% of patients by Week 4 and was highly correlated with percentage improvement in other VAS measures. Presence of ultrasound findings at baseline predicted response to corticosteroids at 4 weeks. Factor analysis revealed 6 domains that sufficiently represented all the outcome measures: PMR-related pain and physical function, an elevated inflammatory marker, hip pain, global pain, mental function, and morning stiffness. Conclusion. PRO measures and inflammatory markers performed well in assessing disease activity in patients with PMR. A minimum set of outcome measures consisting of PRO measures of pain and function and an inflammatory marker should be used in practice and in clinical trials in PMR. (First Release March 152012; J Rheumatol 2012;39:795-803; doi:10.3899/jrheum.110977

Polymorphisms of the peptidylarginine deiminase 4 (PADI4) gene encoding for the isoenzyme that converts arginyl into citrullyl residues have been shown to contribute to susceptibility to rheumatoid arthritis (RA), depending on the population studied. We aimed at determining whether PADI4 single nucleotide polymorphisms (SNPs) are associated with RA in a Hungarian population. The relationship between anticyclic citrullinated peptide (anti-CCP) production and HLA-DRB1 alleles encoding the shared epitope (SE) was also investigated. DNA samples were obtained from RA (n = 261) patients and from control donors (n = 120). HLA-DRB1 genotyping was carried out by polymerase chain reaction (PCR) with sequence-specific priming. PAD4_92 G/C and PAD4_104 T/C SNPs were genotyped using real-time PCR allele discrimination. Autoantibodies against CCP were detected by ELISA. All healthy controls tested anti-CCP negative, whereas 171 (66%) RA patients were anti-CCP positive. No significant difference in allele or genotype frequencies were found between RA patients and controls for any of the PADI4 SNPs. Anti-CCP seropositivity was unrelated to these two SNPs. No association was found between any of the PADI4 SNPs and HLA-DRB1 subtypes. Presence of the HLA-RB1 SE alleles was significantly associated with anti-CCP seropositivity; HLA-DRB1*0401 and HLA-DRB1*1001 carriers showed the strongest association. In conclusion, our data suggest that polymorphisms of the PADI4 gene are not associated with rheumatoid arthritis and are unlikely to be responsible for the presence of anti-CCP autoantibodies in a white Hungarian population. HLA-DRB1 SE alleles, however, may significantly contribute to the genetic determination of anti-CCP production in Hungarian patients with RA.

A polymyalgia rheumatica az 50 év feletti korosztály gyulladásos mozgásszervi megbetegedése, amelyet a vállak, csí-pők, nyak kifejezett fájdalma, reggeli merevsége és nagy szisztémás gyulladás jellemez, rendszerint jól és gyorsan reagál kis dózisú glükokortikoidra. Óriássejtes arteritissel való társulása régóta ismert. Az utóbbi évek klinikai megfi gyelései és tudományos eredményei újabb kihívásokat állítottak a reumatológusszakma elé. Az aspecifi kus, de jellegzetes polymyalgiás szindróma mellett változatos perifériás ízületi tüneteket fi gyeltek meg. A mozgásszervi tünetek hátteré-ben mágneses rezonanciás és ultrahangvizsgálatokkal enyhe, múló, eróziót nem okozó synovitist igazoltak, amely döntően extraartikuláris megjelenésű. Mivel potognosztikus tünete nincs, a PMR diagnózisa továbbra is a differenciáldiagnosztikailag szóba jövő betegségektől való elkülönítésen alapul. Különösen nehéz az időskori gyulladásos arthritisek, időskori rheumatoid arthritis, késői kezdetű spondylarthritis elkülönítése. 2012-ben az amerikai (ACR) és az európai (EULAR) reumatársaságok polymyalgia rheumatica munkacsoportja klasszifi kációs kritériumokat hozott létre, amelynek pontozásos algoritmusa szintén a klinikai tünetekre épül, az ultrahang-kritériumok további segítséget jelentenek. A polymyalgia rheumatica terápiája változatlanul a kis dózisú glükokortikoid, azt helyettesítő hatásos gyógyszer ez ideig nem ismert. A glükokortikoidterápia általában 1-1,5 éven belül elhagyható, az esetek egy részében azonban relapsusokkal járó krónikus lefolyás fi gyelhető meg, a glükokortikoidok hosszú távú, éveken át tartó adása szükséges. A glükokortikoidok jól ismert mellékhatásai (diabetes, hypertonia, hyperlipidaemia, osteoporosis) jelentős morbiditást, gazdasági terhet jelentenek. Újabb gyógyszervizsgálatok folyamatban vannak. A betegség korai felismerése, a glükokortikoidterápia mielőbbi elkezdése és szabályos kivitelezése, a mellékhatások megelőzése és kezelése a reumatológusok mellett a családorvosok napi feladata. A polymyalgia rheumatica ismerete az összes orvosi szakma számára nélkülözhetetlen. Orv. Hetil., 2016, 157(1), 2-12.Kulcsszavak: polymyalgia rheumatica, glükokortikoidok, óriássejtes arteritis Polymyalgia rheumatica update, 2015Polymyalgia rheumatica is an infl ammatory musculoskeletal disorder of people aged 50 years or over, characterised by pain, aching and morning stiffness in the shoulder girdle and often hip girdle and neck. Marked systemic infl ammation and rapid response to corticosteroid therapy are characteristic features. Giant cell arteritis is a well-known association of polymyalgia rheumatica. Recent clinical evidence and scientifi c results in the fi eld have provided new challenges for rheumatologists. Besides the aspecifi c -although characteristic -proximal syndrome, less well recognizable and more variable distal musculoskeletal manifestations were observed. Magnetic resonance and ultrasound studies showed mild, remitting and non-erosive synovitis, with dominating infl ammation of the extraarticular synovial ...