2012 Provisional classification criteria for polymyalgia rheumatica: A European League Against Rheumatism/American College of Rheumatology collaborative initiative

Abstract

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.

“I suddenly felt I’d aged”: A qualitative study of patient experiences of polymyalgia rheumatica (PMR)

“…The results from this study support previous findings of the heterogeneity of PMR which contributes to the complexity of diagnosis and assessment of disease activity [3,19]. The terminology used when discussing symptoms is important in achieving a shared understanding between doctor and patient and enabling a correct diagnosis.…”

“…This is a true strength of this study and allows a wider transferability of the findings. W from a rheumatology specialist, we only included those with a PMR diagnosis and evidence of meeting the classification criteria [3] for PMR namely bilateral pain and stiffness in the hips and shoulders and elevated inflammatory markers. It was surprising that more men than women were recruited given that the quoted incidence ratio is 2:1 female to male [1] but, whilst we acknowledge that there are gender differences in the way patients experience chronic illnesses eg.…”

“…It is characterised by pain and stiffness in the hips and shoulders, raised inflammatory markers and response to glucocorticosteroids, although atypical presentations can occur in up to 20% of those affected [3,4]. PMR has a major impact on quality of life [5] and treatment with corticosteroids is associated with a high rate of adverse effects [6].…”

Fatigue as a precursor to polymyalgia rheumatica: an explorative retrospective cohort study

“…There are currently no formal diagnostic criteria for PMR and recently published classification criteria for PMR do not include fatigue as a core criterion (3)(4)(5) despite it being a common feature reported by many patients (1). A key finding from this study is the high frequency of consultation for fatigue symptoms prior to a diagnosis of PMR being made.…”

“…Making the diagnosis of PMR, especially if the presentation is atypical, can be challenging, particularly within primary care, where non-specific symptoms such as pain and stiffness are common. Systemic features such as malaise, fatigue, and sleep disturbance are common symptoms reported by patients with PMR (1), although they do not form part of the recently published classification criteria, perhaps reflecting their derivation from mainly secondary care populations (4,5), and there is a lack of published information regarding the nature of any relationship.…”