[Development and validation of a questionnaire to assess facial handicap in systemic sclerosis]. / Création et validation d'un outil d'évaluation du handicap lié à l'atteinte du visage de la sclérodermie systémique.

BACKGROUND: Many studies have recorded significant impairment of health-related quality of life in systemic sclerosis patients using validated scales. However, these instruments are not specifically designed for facial signs. OBJECTIVES: To develop and validate a specific questionnaire to assess the burden on patients with facial signs of systemic sclerosis and which we have named "Burden of Face Affected" (BoFA). METHODS: BoFA was developed using standard methodology in 3 phases: exploration, development and validation. In all, 197 patients completed questionnaires. We analysed the degree of internal consistency (Cronbach's α) and external validity between BoFA and the 12-Item Short Form Healthy Survey (SF-12), the Mouth Handicap In Systemic Sclerosis Scale (MHISS), Rosenberg's self-esteem scale, and the Perceived Stress Scale (PSS). To assess reproducibility, a test-retest analysis was conducted. The original French version was translated into English and underwent cultural validation. RESULTS: The questionnaire comprises 20 items grouped into 4 dimensions. BoFA showed good internal consistency (Cronbach's α: 0.93). External validity was demonstrated in terms of good correlation between BoFA and other questionnaires, in particular MHISS (r=0.54). The test-retest analysis demonstrated good reproducibility (0.92). The BoFA score varied significantly according to the severity of facial scleroderma as assessed by the patients themselves. DISCUSSION: Facial involvement in systemic sclerosis may be considered by physicians to be a minor consequence of the disease and is often overlooked. Nevertheless, it is crucial for patients' quality of life. A number of studies have assessed the impact of facial signs on health-related quality of life using instruments such as DLQI (Dermatology Life Quality Index), SWAP (Satisfaction With Appearance Scale), Brief SWAP and SSPRO (Scleroderma Skin Patient-Reported Outcome). However, these are not specific for facial signs and focus on other sites. BoFA has good reliability and construct validity, and it assesses disability specifically involving the face in patients with systemic sclerosis. CONCLUSION: To our knowledge, BoFA is the first specific tool for assessing burden in patients with facial scleroderma. It is an easy-to-use tool for evaluating the burden of facial signs and may also be used to assess the degree of burden before and after treatment.

[What's new in internal medicine?] / Quoi de neuf en médecine interne?

What's new in internal medicine will be dedicated to three topics: i) inflammatory myopathies constituting a heterogenous group of diseases whose clinical manifestations, immunological abnormalities, treatment response and outcomes vary widely; ii) alterations of gut microbiota contributing to the occurrence or development of a range of conditions, including autoimmune diseases for which further work is necessary to understand the correlation of dysbiosis with these diseases; iii) the reciprocal relationship between obesity, metabolic syndrome, atherosclerosis and autoimmune diseases. New data concerning systemic sclerosis, cutaneous vasculitis, adult Still's disease, autoantibodies anti DFS70, Epstein Barr virus and autoimmune diseases were also highlighted.

[Treatment of Hailey-Hailey disease with botulinic toxin: A retrospective study of 8 cases]. / Traitement de la maladie de Hailey-Hailey par toxine botulique : étude rétrospective de huit cas.

BACKGROUND: Hailey-Hailey disease (HHD) is characterised by episodes of weeping erythematous lesions, particularly in areas subject to friction or maceration. Treatment is complex. The value of botulinum toxin has been demonstrated in several studies and in individual cases. AIM: To report clinical and progressive data for 8 patients treated for HHD with injections of botulinum toxin A (BTX-A), following the failure of several other therapeutic approaches. PATIENTS AND METHODS: Eight patients (three males and five females), of median age 52.5 years (31-80), were included in this retrospective study. Familial history of the disease was noted in 75% of cases. The lesions affected the axillary regions (62% of cases), the sub-mammary region (almost all female patients), the inguinal region (75%) and the genital area (25%). The mean dose injected per site and per session was 300IU of Dysport®. Clinical evaluation was based on photographs taken before treatment and then after 6 months. RESULTS: Effects on sweating were rapid and occurred as of the fourth day treatment. On average, patient felt the benefits of the injection within 7 days, with subsidence of their erythema and healing of the rhagades. At 6 months, complete clinical response was noted in 80% of the treated zones (12 sites of 15), with partial response in 3 profuse zones (sub-mammary and inguinal). Maintenance sessions were initiated for 6 of the 8 patients due to relapse beyond six months. CONCLUSION: Botulin toxin appears to offer a therapeutic alternative in resistant forms of HHD, either as follow-on treatment or as an adjuvant to more radical forms of therapy such as CO2 laser. These retrospective data, as well as the optimal doses and injection rates, require further refinement by means of prospective studies.

Heat shock protein 70 potentiates interferon alpha production by plasmacytoid dendritic cells: relevance for cutaneous lupus and vitiligo pathogenesis.

BACKGROUND: Plasmacytoid dendritic cells (pDCs) are a subset of dendritic cells specialized in the production of type I interferon (IFN-α/ß) and involved in various cutaneous inflammatory and autoimmune disorders, such as cutaneous lupus erythematosus (CLE) and vitiligo. Heat shock proteins (HSPs) are molecular chaperones essential for maintaining cellular functions, but they can act as a danger signal during inflammation. OBJECTIVES: To decipher the role of HSP70 in the production of IFN-α by pDCs in CLE and vitiligo. METHODS: Expression of HSP70 and CD123+ pDCs was analysed by immunohistochemistry or immunofluorescence in CLE and vitiligo skin samples. Flow cytometry was performed to analyse expression of HSP70 receptors, activation markers on pDCs and DNA uptake by pDCs in the presence of HSP70. The impact of HSP70 on DNA-induced IFN-α secretion by pDCs was evaluated by enzyme-linked immunosorbent assay (ELISA). The effect of IFN-α on chemokine (C-X-C motif) ligand 9 (CXCL9)/10 gene and protein expression by keratinocytes was determined by real-time polymerase chain reaction and ELISA. RESULTS: Infiltration of pDCs in CLE and progressive vitiligo was primarily located in the epidermis, close to keratinocytes expressing HSP70. In vitro experiments revealed that the pDCs expressing HSP70 receptor Lox-1 (lectin-like oxidized low-density lipoprotein-receptor-1) were able to aggregate HSP70. Exogenous HSP70 induced activation of pDCs and increased the uptake of exogenous DNA. Furthermore, HSP70 potentiated DNA-induced IFN-α production by pDCs. Finally, IFN-α induced expression of CXCL9 and CXCL10 by keratinocytes. CONCLUSIONS: These data demonstrate that interaction between HSP70 and pDCs in CLE and vitiligo is a prerequisite for the enhancement of IFN-α production, and could be an interesting target.

[Latent-disseminated tuberculosis revealed by atypical skin ulcerations]. / Tuberculose disséminée paucisymptomatique révélée par des ulcérations cutanées atypiques.

INTRODUCTION: Cutaneous tuberculosis (CT) is rare in industrialized countries. Given the clinicopathological polymorphism and the difficulty of isolating the pathogen, diagnosis can be difficult. The condition may be associated with other known locations of the disease or in rare cases, it may be a tell-tale sign, as in our case, in which leg ulcers revealed paucisymptomatic disseminated tuberculosis. OBSERVATION: A 67-year-old man was referred for rapidly extensive ulcers of the right leg contiguous to debilitating arthritis of the knee of unknown aetiology for 18 months. Earlier investigations revealed thymoma and a pulmonary nodule considered to be sarcoidosis. A skin biopsy showed a granulomatous eosinophilic-rich infiltrate and vasculitis of the small vessels. Screening of the skin sample and gastric aspirate for Koch Bacillus (BK) was negative. A diagnosis of sarcoidosis was made. A positive QuantiFERON test eventually led to the correct diagnosis. On further testing of bronchoalveolar fluid and a synovial biopsy, culture for Mycobacterium tuberculosis (MT) was positive. The PET scan showed high metabolism in the prostate, bone, spleen, liver, nodes and heart. The quad- and then dual-antibiotic antitubercular therapies produced a rapid improvement but treatment was continued over 12 months, given the persistence of high metabolism on PET-CT scan and the low blood rifampicin concentration. DISCUSSION: A CT should be considered in the presence of giant-cell granulomas, even in the absence of caseous necrosis, and where both direct examination and culture for the skin are negative. Our case also underlines the importance of an extensive workup to rule out disseminated disease even if the patient is not symptomatic.

Chronic urticaria and hormones: Is there a link?

BACKGROUND: While the role of oestrogens in bradykinin angioedema (AE) has been clearly demonstrated, scarce data are available about the role of sex hormones in chronic urticaria (CU). OBJECTIVES: To gather information from a population of women with various forms of CU [chronic spontaneous urticaria (CSU), including a subtype of isolated histaminic AE and a classic subtype of association of wheals and AE, and exclusive inducible urticaria (IU)] about the impact of sex hormones and reproductive factors on their symptoms. METHODS: This was a cross-sectional study comprising interviews of 200 women consulting for CU at nine centres throughout France between May and July 2013. The dermatologists filled in an online questionnaire on the impact of reproductive factors (puberty, contraception and pregnancy) and hormonal treatments on the course of CU, including CSU and IU, in the presence of the women. RESULTS: Most of the women did not experience CU before puberty and if so, puberty did not influence the course of CU. Only 16 women had experienced a pregnancy during CU which caused a worsening of symptoms in four. Hormonal contraception was associated with aggravation in a minority of women, mostly women with CSU (10%). Women with isolated histaminic AE did not exhibit any female sex hormone dependency. CONCLUSIONS: It would appear that sex hormones act as a trigger in only a small subset of women with CU. Nevertheless, this should be taken into account to improve patient management.

[Tranverse acro-osteolysis: A rare cause of nail dystrophy]. / Acro-ostéolyse transversale : une cause rare d'onychopathie.

BACKGROUND: Acro-osteolysis (AO) involves partial or total destruction of the distal phalanges of the fingers or toes. The range of forms of AO is extremely wide. A distinction is generally made between the acquired forms and the genetic and idiopathic forms. Herein we report a case of idiopathic transverse single-finger AO associated with onychopathy. PATIENT AND METHODS: A 48-year-old woman consulted for a nail lesion involving brachyonychia in the right index finger alone (pseudo-clubbing appearance of the finger). The remainder of the clinical examination was normal, particularly in terms of neurological and dermatological investigations. Standard x-rays revealed transverse osteolysis of the middle third of the distal phalanx, occurring solely in the right index finger. DISCUSSION: While certainty regarding diagnosis of AO depends upon radiological findings, the radiological appearance is not specific. Two subgroups suggesting aetiological diagnosis may be distinguished: transverse AO with banding and longitudinal AO. With transverse AO, the diaphysis of the distal phalanx presents osteolysis with banding, but with sparing of the base of the band (pseudo-fracture appearance); this appearance is suggestive of toxic causes, congenital familial conditions or repetitive micro-trauma. Upon x-ray examination, the longitudinal forms exhibit concentric resorption of the band and these forms are more often seen in a setting of neurological, vascular or metabolic disorders. The associated nail involvement frequently present helps clarify the diagnosis, with nail plate shape being dependent on the integrity of the underlying bone. CONCLUSION: Herein we report the first case of transverse AO in a single finger associated with brachyonychia, and with no discernible cause.

[Systemic urticaria in 2014]. / Urticaires systémiques en 2014.

Systemic urticaria are defined as urticaria, most often chronic, associated with systemic diseases. At present time, urticarial vasculitis and neutrophilic urticarial dermatosis associated to autoinflammatory syndromes are not considered to be subtypes of chronic spontaneous urticaria due to their distinctly clinical and histological characteristics as well different pathomechanisms. Sometimes, chronic urticaria is associated to thyroid autoimmunity. However, the majority of cases of chronic spontaneous urticaria have no discernible cause and further investigations are not necessary, as already suggested by some authors and French consensus conference more than 10 years ago.

[What's new in internal medicine?]. / Quoi de neuf en médecine interne?

In this paper based on a review of medical articles from September 2012 to September 2013, new data were selected about IgG4-related disease, connections between vitamin D and systemic lupus erythematosus, revised nomenclature of vasculitis, effects of salt on autoimmunity, new autoinflammatory syndromes and some diseases as systemic sclerosis and thrombangiitis obliterans.