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Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02., Frontal fibrosing alopecia (FFA) features lichenoid cutaneous inflammation and scarring hair loss. Here, Tziotzios et al. identify four genetic loci associated with FFA by GWAS followed by Bayesian fine-mapping, co-localisation and HLA imputation which highlights HLA-B*07:02 as a risk factor.

Coding of dermatology surgery procedures allows the trust to be paid for these services. This is dependent on accurate documentation from the operating doctor. Historically, this relied on a laborious process of analysing paper notes that were often incomplete, hard to decipher or sometimes missing altogether. This led to low reimbursement for activities carried out by our department and we sought to utilise the new electronic medical records (EMR), Cerner, system to be able …

Males with genital skin disease may present to clinicians in primary care, dermatology, genitourinary medicine, or urology clinics. Male genital dermatoses encompass a wide variety of skin lesions and rashes, some of which are limited to the genital area whereas others, such as psoriasis, can be part of a more generalised skin disorder. Genital skin disease can impact on the physical, psychological, and sexual wellbeing of men. Some dermatoses are precancerous, and cancer of the penis is associated with morbidity and mortality and litigation.1 This clinical update provides a guide to normal anatomical variations of the penis, how to recognise and manage common benign male genital dermatoses, and when to refer for specialist opinion. #### Sources and selection criteria We searched PubMed and Google Scholar for clinically relevant studies (Jan 2000 to Jul 2016), and the Cochrane Library, using the search terms “Balanitis”, “Balanoposthitis”, “Penile Dermatoses”, “Genital Dermatoses”, along with terms specific to each condition. We consulted the Cochrane Library, National Institute for Health and Care Excellence, British Association of Dermatologists, and British Association for Sexual Health and HIV for guidelines. Patients may be asymptomatic or describe pruritus, soreness, pain, dyspareunia, splitting of the foreskin, non-retractile foreskin (phimosis) or foreskin fixed in retraction (paraphimosis), scaling, erosion, and ulceration.2 3 The foreskin is a delicate tissue that is in close contact with urine, sweat, moisture, sexual secretions, desquamative products, detergents, potential allergens, and microbes. These factors may expose the foreskin to general irritation, pain, and dysfunction (eg, paraphimosis or phimosis, dribbling of urine, dyspareunia).3 4 Further progression of infection and inflammation can cause scarring, disfigurement, and, rarely, precancerous or cancerous lesions. Most men presenting to a specialist male genital dermatology clinic are uncircumcised.5 Circumcision protects men from inflammatory genital dermatoses, including psoriasis, seborrhoeic dermatitis, lichen planus, and lichen sclerosus.5 Predisposition to …

OBJECTIVE: To investigate the prevalence of autoimmune disease and circulating autoantibodies in women with lichen sclerosus (LS) and erosive lichen planus (LP) of the vulva and to compare these with a control population. DESIGN: Age- and sex-matched controlled study. SETTING: The vulval clinics in Oxfordshire, England, for patients with LS and LP. Healthy controls were recruited from the hospital and community. PATIENTS: A total of 190 women with the typical features of adult-onset LS of the vulva, 126 women with adult-onset erosive LP of the vulva, and 922 female controls (of whom 230 were examined). INTERVENTIONS: Personal history of autoimmune disorder for patients and controls, family history of autoimmune disorder for vulval LS and LP cohorts, and an autoantibody screen. MAIN OUTCOME MEASURES: The presence or absence of a personal or family history of autoimmune disorder, and the presence or absence of 1 or more circulating autoantibodies. RESULTS: The mean ages of patients with LS, patients with erosive LP, and control patients were 63, 61, and 61 years, respectively. The mean age of the 230 controls examined (including those who had serum autoantibodies assayed) was 62 years. Autoimmune disorders were more frequent in patients with erosive LP compared with controls (29% vs 9%; P < .001) and in those with LS compared with controls (28% vs 9%; P < .001). Circulating autoantibodies were more frequent in those with erosive LP compared with controls (41% vs 20%; P < .001). Conclusion This study demonstrates an association of autoimmune disorder and autoantibodies with erosive LP of the vulva and confirms the autoimmune associations of vulval LS.

Autoantibodies to basement membrane proteins BP180 and BP230 are characteristic of bullous pemphigoid and other subepidermal immunobullous disorders. These antibodies are, however, reported in other pruritic dermatoses, non-bullous disorders and non-cutaneous disease. Few studies have assessed basement membrane antibodies in normal subjects; antibody prevalence in this population is not clear. This study aims to examine basement membrane zone antibodies in normal middle-aged to elderly subjects. Sera from 61 healthy subjects (majority age 50-70 years) were assessed by immunoblot, indirect immunofluorescence and enzyme-linked immunosorbent assay. Ninety-one bullous pemphigoid patients acted as positive controls. Antigenic target, antibody class and titre were examined; sera binding BP180 were assessed for reactivity to the non-collagenous 16A (NC16A) domain. Thirty-six normal subjects (59%) had antibodies to either BP180 or BP230 on immunoblot analysis. BP180 was the commonest target antigen, detected in 35 subjects; binding to the immunodominant NC16A domain was not detected. Immunofluorescence was positive in three subjects. Of the bullous pemphigoid sera, 88% were positive on immunoblot or immunofluorescence; a higher frequency had antibodies against BP230. In conclusion, significant numbers of normal healthy subjects have circulating autoantibodies to basement membrane proteins, chiefly BP180 detectable by immunoblot, but these do not bind the NC16A domain.

Summary Aim. To determine whether there is an association between the use of angiotensin-converting enzyme (ACE) inhibitors, beta-blockers and nonsteroidal anti-inflammatory drugs (NSAIDS) in women with mucosal (oral and vulval) lichen planus (LP) compared with a control population. Methods. This was a retrospective review of medical records in dedicated vulval and oral clinics in hospitals. The study population comprised 141 women with vulval LP and 106 women with oral LP. Medications taken at the time of diagnosis were recorded. Results. Patients with mucosal LP were more likely to be on NSAIDS and beta-blockers, but less likely to be on ACE inhibitors compared with controls. All three groups were found to have an inverse relationship with ACE inhibitors, but no association was found between patients with oral LP and beta-blockers. Conclusions. Beta-blockers and NSAIDS are associated with LP, suggesting that withdrawal of these drugs should be considered. Further studies are needed to confirm or refute the inverse relationship between mucosal LP and use of ACE inhibitors.

Hirsutism can be a source of great distress and social embarrassment and in some cases can indicate underlying endocrine or malignant disease. More is known about the metabolic consequences of hyperandrogenism including risk of developing cardiovascular disease, insulin resistance or diabetes. Full assessment is vital in light of the potential health consequences of hirsutism.

The changes in androgen levels after the menopause and the effects of hormone replacement therapy (HRT) itself and the mode of HRT have not been established. The objectives of this study were to document the effect of age on androgen levels in a normal population of postmenopausal women and to investigate the effect of oral or transdermal HRT on androgen, oestradiol and sex hormone binding globulin (SHBG) values.: A cross-sectional study was conducted on 182 postmenopausal females aged 45–100 years, randomly recruited from the community. Serum levels of dehydroepiandrosterone sulphate (DHEAS), androstenedione, testosterone, free androgen index (FAI) and SHBG in a reference group of women, subdivided by age, menopausal status, HRT replacement and mode of HRT replacement.: Age was a significant factor affecting androstenedione (: The observations suggest the need to provide age-specific reference intervals for androstenedione and DHEAS but not for testosterone and SHBG. The significant effect of HRT treatment would also suggest a need for treatment associated reference intervals for androstenedione, SHBG and FAI. Suggested reference intervals for each of these partitioned groups are presented.Clin Chem Lab Med 2009;47:202–7.

The aim of this study was to investigate whether increased oxidative stress occurs in erosive lichen planus of the vulva. Skin biopsies from six patients with untreated, histologically confirmed erosive lichen planus of the vulva were examined immunohistochemically using antibodies against antioxidant enzymes. The protein-bound lipid peroxidation products malondialdehyde (MDA) and 4-hydroxynonenale (4-HNE) and the oxidative DNA damage marker 8-hydroxy-2'-deoxyguanosine (8-OHdG) were investigated. Protein carbonyls as markers of protein oxidation were visualised using the dinitrophenylhydrazone (DNPH) method. Normal vulval tissues from 12 subjects served as controls. In vulval lichen planus tissue the enzymatic antioxidant defence was found to be significantly decreased in the epidermal layers. Furthermore, a significant increase of lipid peroxidation products and oxidative DNA damage was found within the epidermis. Protein oxidation occurred predominantly in the papillary dermis. This is the first study to demonstrate a decreased antioxidant defence and increased oxidative damage to lipids, DNA and proteins in lichen planus. These oxidative modifications point to pathophysiological alterations mainly within the basal cell layers of the epidermis and at the dermoepidermal junction. Further studies are warranted to investigate the potential role of oxidative stress in the development of autoimmunity in this disease.

“Your baby is suffering from a genetic skin disorder, her skin is too fragile, she'll probably not make it over the next few days.” Shock and bewilderment summed up our family's emotions. Now, 10 years later, although not cured, our niece Myra is doing quite well, and we can reflect on our experiences. As medical students we are painfully aware of the different priorities of doctors and patients; as second generation members of an immigrant Pakistani family we have struggled to reconcile traditional beliefs with Western medicine. Myra suffers from recessive dystrophic epidermolysis bullosa (EB), a congenital skin disorder characterised by blistering of skin and mucous membranes on even mild mechanical trauma. When she was born we had not heard of EB. The first few weeks after discharge from hospital were particularly stressful. Although the nursing staff had encouraged us to handle, feed, and bandage her, being away from the hospital setting gave us great cause for anxiety. What would we do if something happened? It was no comfort to find that medical staff seemed to share our ignorance. Nobody seemed to know what care entailed apart from careful handling to prevent blisters from forming, or what to do about blisters once they had appeared. We were advised to cover them with dressings and leave them …