Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - December 26, 2019 Category: Genetics & Stem Cells Authors: Mirjana Gusic, Gudrun Schottmann, Ren é G. Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr, Chae-Young Lee, Vicente A. Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M. Panneman, Agnès Rötig, Richard J.T. Rodenburg, Saski Tags: Report Source Type: research

Assessment of Treatment Efficacy of Diphenylcyclopropenone (DPCP) for Alopecia Areata.
Conclusions There was a significant relation between the severity of alopecia and treatment outcome. (p=0.038) Patients with alopecia areata had significantly better response when compared to alopecia totalis and universalis. There was no statistically significant relation with other parameters such as disease duration, age, gender, atopy history, age of onset, and histopathological features. PMID: 31655499 [PubMed - as supplied by publisher] (Source: Turkish Journal of Medical Sciences)
Source: Turkish Journal of Medical Sciences - October 29, 2019 Category: General Medicine Tags: Turk J Med Sci Source Type: research

Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.
In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, ...
Source: Immunological Investigations - October 8, 2019 Category: Allergy & Immunology Tags: Immunol Invest Source Type: research

Tofacitinib therapy for the treatment of alopecia areata: Report of 11 patients
Background: Alopecia areata (AA) is a chronic disorder characterized by patchy loss of hair. Sometimes disease can be severe leading to loss of entire scalp and body hair. Management of these patients is very difficult with the available options of topical and systemic immunosuppressant agents. Tofacitinib, JAK3 inhibitor, is emerging as a promising drug for the management of severe and resistant cases of AA/totalis/universalis. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - August 21, 2019 Category: Dermatology Source Type: research

Epidemiology of alopecia areata, ophiasis, totalis and universalis: A systematic review and meta-analysis
Alopecia areata (AA) is a common, autoimmune, alopecia with heterogeneous severity and distribution. Previous studies found conflicting results about AA epidemiology. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - August 19, 2019 Category: Dermatology Authors: Harrison H. Lee, Eran Gwillim, Kevin R. Patel, Tammy Hua, Supriya Rastogi, Erin Ibler, Jonathan I. Silverberg Source Type: research

Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis
Alopecia  areata (AA) is a common autoimmune alopecia with heterogeneous severity and distribution. Previous studies found conflicting results about AA epidemiology. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - August 19, 2019 Category: Dermatology Authors: Harrison H. Lee, Eran Gwillim, Kevin R. Patel, Tammy Hua, Supriya Rastogi, Erin Ibler, Jonathan I. Silverberg Tags: Original article Source Type: research

Impact of alopecia areata on psychiatric disorders: A retrospective cohort study
To the Editor: Alopecia areata (AA) is a common inflammatory condition presenting as round or oval patches of nonscarring hair loss. Although AA is not life threatening, psychiatric comorbidities are especially common, and the effect of these comorbidities is considerable in severe cases, such as alopecia totalis or alopecia universalis.1,2 However, a relationship between AA and psychiatric disorders (PDs) and the effect of disease severity and duration are not well known. Therefore, we performed a retrospective cohort study to investigate the risk of various PDs in patients with AA using data from the National Health Insu...
Source: Journal of the American Academy of Dermatology - July 3, 2019 Category: Dermatology Authors: Jin Cheol Kim, Eun-So Lee, Jee Woong Choi Tags: Letter Source Type: research

Incidence and prevalence of alopecia areata according to subtype: A nationwide, population-based study in South Korea (2006-2015).
This article is protected by copyright. All rights reserved. PMID: 31102412 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - May 18, 2019 Category: Dermatology Authors: Lee JH, Kim HJ, Han KD, Han JH, Bang CH, Park YM, Lee JY, Lee SJ, Park YG, Lee YB Tags: Br J Dermatol Source Type: research

Patients with alopecia areata show signs of insulin resistance
AbstractAlopecia areata (AA) is an autoimmune disease associated with high levels of proinflammatory cytokines. Since chronic inflammation plays a major role in the pathogenesis of insulin resistance, AA can theoretically increase the risk of diabetes. We sought to investigate this theory by conducting a case –control study. Sixty patients with alopecia areata and 60 healthy volunteers (matched for age, sex, and body mass index) were evaluated. Fasting blood glucose (FBS), C-peptide, plasma insulin, and homeostasis model assessment for insulin resistance (HOMA-IR) were measured for each individual. Pla sma levels of ...
Source: Archives of Dermatological Research - May 14, 2019 Category: Dermatology Source Type: research

231 Epidemiology of alopecia areata, totalis, universalis, and ophiasis: A systematic review and meta-analysis
Alopecia areata (AA) is a common autoimmune alopecia with heterogeneous severity and distribution. Previous studies found conflicting results about the epidemiology of AA. We performed a systematic review of all published cohort and cross-sectional studies that analyzed AA, and excluded other types of alopecia.MEDLINE, EMBASE, LILACS, Scopus, Cochrane library and GREAT were searched. The pooled prevalence of AA, alopecia totalis (AT), ophiasis (AO), and universalis (AU) were determined and stratified by population source, study region, study year and age. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 20, 2019 Category: Dermatology Authors: H.H. Lee, K. Patel, T. Hua, E.C. Gwillim, S. Rastogi, J. Silverberg Tags: Epidemiology Source Type: research

Alopecia areata is characterised by dysregulation in systemic type 17 and type 2 cytokines, which may contribute to disease-associated psychological morbidity.
CONCLUSION: Our data highlight changes in both type 17 and 2 cytokines, suggesting that complex systemic cytokine profiles may contribute both to the pathogenesis of AA and to the associated depression This article is protected by copyright. All rights reserved. PMID: 30980732 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 13, 2019 Category: Dermatology Authors: Bain KA, McDonald E, Moffat F, Tutino M, Castelino M, Barton A, Cavanagh J, Ijaz UZ, Siebert S, McInnes IB, Astrand A, Holmes S, Milling SWF Tags: Br J Dermatol Source Type: research

Are Preferred Scalp Locations for Alopecia Areata Patches a Clue to Neuronal Etiology?
Conclusion: AA patches most commonly present on the occiput of the scalp in both female and male patients. Cervical spine nerves C3 and C2 supply sensory innervation and the occipital artery supplies blood to this area.Skin Appendage Disord (Source: Skin Appendage Disorders)
Source: Skin Appendage Disorders - March 22, 2019 Category: Dermatology Source Type: research

GSE111061 An Open-Label Pilot Study to Evaluate the Efficacy of Tofacitinib in Moderate to Severe Patch Type Alopecia Areata, Totalis and Universalis
This study was an open-label, clinical trial to investigate tofacitinib 5 mg to 10 mg PO twice daily in the treatment of moderate/severe alopeica areata and to identify if gene expression of the scalp correlates with clinical response. Gene expression profiling was performed on scalp biopsies of alopecia areata patients taken at baseline and up to 24 weeks of treatment of tofacitinib. We applied both na ïve and supervised clustering to this dataset in order to assess two features: the overall molecular effect of tofacitinib treatment on patient samples, and the concordant molecular response of the disease. The former ...
Source: GEO: Gene Expression Omnibus - February 28, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations
We report two cases of familial VDDR2A, with alopecia and oral manifestations. (Source: Journal of Oral and Maxillofacial Pathology)
Source: Journal of Oral and Maxillofacial Pathology - February 22, 2019 Category: ENT & OMF Authors: Moni Thakur Source Type: research

Serum interleukin-15 is a marker of alopecia areata severity
Conclusion: Serum IL-15 may be a marker of AA severity. (Source: International Journal of Trichology)
Source: International Journal of Trichology - February 13, 2019 Category: Dermatology Authors: Adel Ali Ebrahim Rehab Mohammed Salem Asmaa Adel El Fallah Esraa Taha Younis Source Type: research

Efficacy of diphenylcyclopropenone in alopecia areata: a comparison of two treatment regimens.
Authors: Nowicka D, Maj J, Jankowska-Konsur A, Hryncewicz-Gwóźdź A Abstract Introduction: Alopecia areata (AA) is a skin disease of unclear etiology. In AA, topical immunotherapy with diphenylcyclopropenone (DPCP) is considered the most effective treatment; however, the most common therapies give unsatisfactory results. Aim: To assess the efficacy of a topical application of a solution of DPCP based on the intensity, duration and number of exacerbations of AA and to compare the efficacy of two treatment regimens. Material and methods: In this prospective study, 39 patients with AA were enrolled. Gr...
Source: Advances in Dermatology and Allergology - January 10, 2019 Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research

Severity of disease and quality of life in parents of children with alopecia areata, totalis, and universalis: a prospective, cross-sectional study
•Chronic disease impacts parent’s quality of life. Awareness of the impact of alopecia areata on the emotional health of parents should lead to more family centered care for this disease. Parent needs support systems as much as children do. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - January 9, 2019 Category: Dermatology Authors: Elana Putterman, Deepa P. Patel, Gabriela Andrade, Katya L. Harfmann, Marcia Hogeling, Carol E. Cheng, Carolyn Goh, Rachel S. Rogers, Leslie Castelo-Soccio Source Type: research

Janus Kinase Inhibitors for the Treatment of Severe Alopecia Areata: An Open-Label Comparative Study
Conclusion: Both ruxolitinib and tofacitinib could be considered effective and well-tolerated treatments for extensive AA.Dermatology (Source: Dermatology)
Source: Dermatology - December 19, 2018 Category: Dermatology Source Type: research

Alopecia areata: A multifactorial autoimmune condition.
Abstract Alopecia areata is an autoimmune disease that results in non-scarring hair loss, and it is clinically characterised by small patches of baldness on the scalp and/or around the body. It can later progress to total loss of scalp hair (Alopecia totalis) and/or total loss of all body hair (Alopecia universalis). The rapid rate of hair loss and disfiguration caused by the condition causes anxiety on patients and increases the risks of developing psychological and psychiatric complications. Hair loss in alopecia areata is caused by lymphocytic infiltrations around the hair follicles and IFN-γ. IgG antibod...
Source: Journal of Autoimmunity - December 15, 2018 Category: Allergy & Immunology Authors: Simakou T, Butcher JP, Reid S, Henriquez FL Tags: J Autoimmun Source Type: research

Living with alopecia areata: An online qualitative survey study.
CONCLUSIONS: Findings suggest that negative cultural meanings of hair and hair loss are pervasive and may drive social avoidance and camouflage behaviours in people with AA. Normalising social interactions with healthcare practitioners, significant others and peers were cited as pivotal to positive adjustment. Support groups and online forums were highly valued particularly as few had been offered specialist psychological support. Future research should develop and evaluate psychological support to address the specific challenges of living with AA. This article is protected by copyright. All rights reserved. PMID: 305...
Source: The British Journal of Dermatology - November 30, 2018 Category: Dermatology Authors: Davey L, Clarke V, Jenkinson E Tags: Br J Dermatol Source Type: research

Psoriasis in a cohort of patients with common variable immunodeficiency
This article is protected by copyright. All rights reserved. (Source: British Journal of Dermatology)
Source: British Journal of Dermatology - November 10, 2018 Category: Dermatology Authors: M. Megna, A. Pecoraro, N. Balato, A. Villani, L. Crescenzi, A. Balato, G. Spadaro Tags: Research Letter Source Type: research

Psoriasis in a cohort of patients with common variable immunodeficiency.
This article is protected by copyright. All rights reserved. PMID: 30414274 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - November 10, 2018 Category: Dermatology Authors: Megna M, Pecoraro A, Balato N, Villani A, Crescenzi L, Balato A, Spadaro G Tags: Br J Dermatol Source Type: research

Treatment of alopecia areata: An Australian expert consensus statement
AbstractAlopecia areata (AA) severity varies from a single small patch to complete loss of scalp hair, body hair, eyelashes and eyebrows. While 40% of all affected individuals only ever get one patch and will achieve a spontaneous complete durable remission within 6  months, 27% will develop additional patches but still achieve complete durable remission within 12 months and 33% will develop chronic AA. Without systemic treatment, 55% of individuals with chronic AA will have persistent multifocal relapsing and remitting disease, 30% will ultimately develop al opecia totalis and 15% will develop alopecia universal...
Source: Australasian Journal of Dermatology - November 8, 2018 Category: Dermatology Authors: William C Cranwell, Vivien WY Lai, Louise Photiou, Nekma Meah, Dmitri Wall, Deepani Rathnayake, Shobha Joseph, Vijaya Chitreddy, Shyamalar Gunatheesan, Kamaldeep Sindhu, Pooja Sharma, Jack Green, Samantha Eisman, Leona Yip, Leslie Jones, Ro Tags: Consensus Article Source Type: research

Treatment of alopecia areata: An Australian expert consensus statement.
Abstract Alopecia areata (AA) severity varies from a single small patch to complete loss of scalp hair, body hair, eyelashes and eyebrows. While 40% of all affected individuals only ever get one patch and will achieve a spontaneous complete durable remission within 6 months, 27% will develop additional patches but still achieve complete durable remission within 12 months and 33% will develop chronic AA. Without systemic treatment, 55% of individuals with chronic AA will have persistent multifocal relapsing and remitting disease, 30% will ultimately develop alopecia totalis and 15% will develop alopecia u...
Source: The Australasian Journal of Dermatology - November 8, 2018 Category: Dermatology Authors: Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R Tags: Australas J Dermatol Source Type: research

Seasonal patterns in alopecia areata, totalis, and universalis
To the Editor: Although seasonal patterns of pediatric alopecia areata (AA), totalis (AT), and universalis (AU) have been suspected clinically, there is limited research about whether disease flares follow a temporal pattern.1-3 Patients and families report increased hair loss during the winter, with cycles of regrowth in summer months. Through retrospective review of medical records, we sought to identify whether AA, AT, and AU flares show seasonal variation in pediatric patients and to characterize temporal patterns. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - October 12, 2018 Category: Dermatology Authors: Elana Putterman, Leslie Castelo-Soccio Tags: Research letter Source Type: research

Hair Regrowth After Long-standing Alopecia Totalis and Atopic Dermatitis Treated With Dupilumab
This case report describes hair regrowth in a patient with long-standing alopecia totalis and atopic dermatitis treated with dupilumab. (Source: JAMA Dermatology)
Source: JAMA Dermatology - October 10, 2018 Category: Dermatology Source Type: research

Comparison of the Treatment Outcome of Oral Tofacitinib with Other Conventional Therapies in Refractory Alopecia Totalis and Universalis: A Retrospective Study.
In conclusion, oral tofacitinib was more effective than diphenylcyclopropenone immunotherapy and more tolerable than conventional oral treatment after 6 months of treatment. PMID: 30281139 [PubMed - as supplied by publisher] (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - October 3, 2018 Category: Dermatology Authors: Shin JW, Huh CH, Kim MW, Lee JS, Kwon O, Cho S, Park HS Tags: Acta Derm Venereol Source Type: research

Is methotrexate an effective and safe treatment for maintaining hair regrowth in people with alopecia totalis? A critically appraised topic
British Journal of Dermatology,Volume 179, Issue 3, Page e147-e147, September 2018. (Source: British Journal of Dermatology)
Source: British Journal of Dermatology - September 17, 2018 Category: Dermatology Authors: R. Browne , L. Stewart , H.C. Williams Source Type: research

Systemic treatments for alopecia areata: A systematic review.
Abstract A range of systemic treatments are used for alopecia areata with variable evidence supporting efficacy. In this systematic review, we evaluated the evidence surrounding systemic treatments for alopecia areata, alopecia totalis and alopecia universalis. A systematic search was conducted of the peer-reviewed literature published between 1946 and March 2018 via Medline, Embase, Amed, the Cochrane Central Register of Controlled Trials, PsychINFO and Lilacs. All randomised controlled trials (RCTs) that evaluated the effectiveness of systemic treatments for individuals with alopecia areata, totalis or universal...
Source: The Australasian Journal of Dermatology - September 6, 2018 Category: Dermatology Authors: Lai VWY, Chen G, Gin D, Sinclair R Tags: Australas J Dermatol Source Type: research

LB1485 Prevalence of alopecia areata in the United States from a large cross-sectional survey
The prevalence of alopecia areata (AA) in the United States (US) is not well known. A commonly cited self-reported period prevalence of 0.16% is sourced from the National Health and Nutrition Examination Survey (NHANES) over 40 years ago (1971-74). Other studies focused on alopecia totalis (AT; 100% scalp hair loss) and alopecia universalis (AU; complete body hair loss). We administered an online cross-sectional survey to a representative sample (n=45,016 aged ≥11years) of the US population with respect to age (11-17 years represented by parent proxy), gender, race, income, and region. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2018 Category: Dermatology Authors: A. Mostaghimi, B. Michael, M. Udall, K. Anastassopoulos, J. Cappelleri, S. Daniel, P. Wahl, P. Chander, J. Lapthorn, L. Chen, E. Peeva Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research

The efficacy and safety of tofacitinib in patients with alopecia totalis
Background: Alopecia areata (AA) is a common hair loss condition that is characterized by acute onset of nonscarring hair loss in usually sharply defined areas ranging from small patches to extensive or less frequently diffuse involvement. In a mouse model of AA, CD8+NKG2D+ T cells were shown to be central in AA, causing up-regulation of interleukin-15 in hair follicles and ultimately production of INF- γ, which targets the hair follicle for attack. The common gamma chain (γc; expressed by IL-15R) signals through Janus kinase (JAK) 1 and 3, whereas INF-γ through JAK 1 and 2. (Source: Journal of the Americ...
Source: Journal of the American Academy of Dermatology - August 2, 2018 Category: Dermatology Source Type: research

Multi-Concentration Level Patch Test Guided Diphenyl Cyclopropenone (DPCP) Treatment in Alopecia Totalis or Alopecia Universalis.
Conclusion: Patch test guided DPCP therapy may be a new regimen for alopecia areata treatment because of shortening treatment duration without increasing complications. PMID: 29911776 [PubMed - in process] (Source: Journal of the Medical Association of Thailand = Chotmaihet thangphaet)
Source: Journal of the Medical Association of Thailand = Chotmaihet thangphaet - June 21, 2018 Category: General Medicine Tags: J Med Assoc Thai Source Type: research

Mesalazine in the treatment of extensive alopecia areata: A new therapeutic option ?
Conclusions: In extensive and refractory AA cases, the topical treatment combined with mesalazine may provide excellent results, reducing the need for extended oral corticosteroids courses. Besides that, mesalazine seems to minimize relapses on discontinuation of oral steroids. Controlled studies are needed to confirm the effectiveness of this combination. (Source: International Journal of Trichology)
Source: International Journal of Trichology - June 20, 2018 Category: Dermatology Authors: Ana Elisa Kiszewski Mariele Bevilaqua Luciana Boff De Abreu Source Type: research

Tofacitinib (Selective Janus Kinase Inhibitor 1 and 3): A promising therapy for the treatment of alopecia areata: A case report of six patients
Conclusion: In our patients, tofacitinib successfully alleviated AU in the absence of significant adverse side effects. We recommend that further controlled studies be required to establish safety and confirm efficacy. (Source: International Journal of Trichology)
Source: International Journal of Trichology - June 20, 2018 Category: Dermatology Authors: Chandrashekar Byalekere Shivanna Chaithra Shenoy R Arti Priya Source Type: research

& #8220;Turban PUVAsol: & #8221; A simple, novel, effective, and safe treatment option for advanced and refractory cases of alopecia areata
Conclusion: We found topical Turban PUVAsol to be a very cost-effective and safe treatment option for AA. (Source: International Journal of Trichology)
Source: International Journal of Trichology - June 20, 2018 Category: Dermatology Authors: Banashree Majumdar Abhishek De Soumyodhriti Ghosh Amrita Sil Aarti Sarda Koushik Lahiri Gobinda Chatterjee Sudip Das Source Type: research

Risk of sun ‐induced skin cancers in patients with alopecia areata, alopecia totalis and alopecia universalis
Journal of the European Academy of Dermatology and Venereology, EarlyView. (Source: Journal of the European Academy of Dermatology and Venereology)
Source: Journal of the European Academy of Dermatology and Venereology - May 28, 2018 Category: Dermatology Authors: R.R.Z. Conic , R. Miller , M. Piliang , W. Bergfeld , N. Atanaskova Mesinkovska Source Type: research

Is methotrexate an effective and safe treatment for maintaining hair regrowth in people with alopecia totalis? A critically appraised topic.
This article is protected by copyright. All rights reserved. PMID: 29777625 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - May 19, 2018 Category: Dermatology Authors: Browne R, Stewart L, Williams HC Tags: Br J Dermatol Source Type: research

Is methotrexate an effective and safe treatment for maintaining hair regrowth in people with alopecia totalis? A critically appraised topic
British Journal of Dermatology,Volume 0, Issue ja, -Not available-. (Source: British Journal of Dermatology)
Source: British Journal of Dermatology - May 19, 2018 Category: Dermatology Authors: R. Browne , L. Stewart , H.C. Williams Source Type: research

Topical 2% tofacitinib for children with alopecia areata, alopecia totalis, and alopecia universalis
To the Editor: Alopecia areata (AA) is an autoimmune condition with limited treatment options, particularly in pediatric populations. There are no Food and Drug Administration –approved treatments for children with AA, and medications used for alopecia totalis (AT) and alopecia universalis (AU) lack large, controlled studies.1 The mainstays of treatment are topical or intralesional steroids and irritant therapy. Some families opt for systemic therapies, including oral c orticosteroids or off-label use of immunosuppressive drugs, such as methotrexate, cyclosporine A, mycophenolate mofetil, or azathioprine. (Source: Jo...
Source: Journal of the American Academy of Dermatology - May 11, 2018 Category: Dermatology Authors: Elana Putterman, Leslie Castelo-Soccio Tags: Research letter Source Type: research

An unusual case of hamartomatous polyposis with malignancy complication in a patient with ulcerative colitis treated with golimumab.
We report an unusual case of hamartomatous polyposis with malignant complications in a patient with ulcerative colitis on golimumab and previous thiopurine therapy. This patient was evaluated for iron deficiency anemia and underwent hemicolectomy for extensive right-side predominant inflammatory pseudopolyps. Anemia persisted post-colectomy and subsequent gastroscopy showed a fungating polypoid lesion along with numerous carpet-like strawberry appearing polyps in the stomach extending from the gastro-esophageal junction to the distal part of the antrum, necessitating a gastrectomy. Histology showed extensive hamartomatous-...
Source: Acta Gastro-Enterologica Belgica - March 23, 2018 Category: Gastroenterology Tags: Acta Gastroenterol Belg Source Type: research

Diphencyclopropenone (DPCP) for alopecia areata: a UK survey.
Abstract Alopecia areata (AA) is a T-cell mediated autoimmune hair loss condition with an estimated lifetime risk of 1.7%. It is characterized clinically by sudden-onset non-inflammatory hair loss that may occur at any site. The disease course is unpredictable with many patients experiencing spontaneous re-growth along with episodes of further loss. Unfortunately, around a fifth of patients presenting with patchy alopecia will progress to complete scalp (alopecia totalis (AT)) or scalp & body (alopecia universalis (AU)) hair loss from which spontaneous regrowth is rare (
Source: The British Journal of Dermatology - February 26, 2018 Category: Dermatology Authors: Karanovic S, Harries M, Kaur MR Tags: Br J Dermatol Source Type: research

An Open-Label Pilot Study to Evaluate the Efficacy of Tofacitinib in Moderate to Severe Patch Type Alopecia Areata, Totalis and Universalis
Alopecia areata (AA) is a common autoimmune disease, with a lifetime risk of ∼2%. In AA, the immune systems targets the hair follicle, resulting in clinical hair loss. AA prognosis is unpredictable, and currently there is no definitive treatment. Our previous whole genome expression studies identified active immune circuits in AA lesions, including common γ-chain cytokine and IFN pathways. Since these pathways are mediated through JAK kinases, we prioritized clinical exploration of small molecule JAK inhibitors. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 13, 2018 Category: Dermatology Authors: A. Jabbari, F. Sansaricq, J. Cerise, J.C. Chen, A. Bitterman, G. Ulerio, J. Borbon, R. Clynes, A.M. Christiano, J. Mackay-Wiggan Tags: Original Article Source Type: research

An Open-Label Pilot Study to Evaluate the Efficacy of Tofacitinib in Moderate to Severe Patch-Type Alopecia Areata, Totalis, and Universalis
Alopecia areata (AA) is a common autoimmune disease with a lifetime risk of ∼2%. In AA, the immune system targets the hair follicle, resulting in clinical hair loss. The prognosis of AA is unpredictable, and currently there is no definitive treatment. Our previous whole genome expression studies identified active immune circuits in AA lesions, including common γ-chain cy tokine and IFN pathways. Because these pathways are mediated through JAK kinases, we prioritized clinical exploration of small molecule JAK inhibitors. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 13, 2018 Category: Dermatology Authors: A. Jabbari, F. Sansaricq, J. Cerise, J.C. Chen, A. Bitterman, G. Ulerio, J. Borbon, R. Clynes, A.M. Christiano, J. Mackay-Wiggan Tags: Original Article Source Type: research

Diphencyclopropenone (DPCP) for alopecia areata: a UK survey
Abstract Alopecia areata (AA) is a T‐cell mediated autoimmune hair loss condition with an estimated lifetime risk of 1.7%. It is characterized clinically by sudden‐onset non‐inflammatory hair loss that may occur at any site. The disease course is unpredictable with many patients experiencing spontaneous re‐growth along with episodes of further loss. Unfortunately, around a fifth of patients presenting with patchy alopecia will progress to complete scalp (alopecia totalis (AT)) or scalp & body (alopecia universalis (AU)) hair loss from which spontaneous regrowth is rare (
Source: British Journal of Dermatology - February 1, 2018 Category: Dermatology Authors: S. Karanovic, M. Harries, M.R. Kaur Tags: Research Letter Source Type: research

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation
Germline heterozygous NFKB2  variants that result in an unprocessable NF-κB2 (nuclear factor-kappa-B) p100 subunit have been identified as a cause of primary immunodeficiency.1 Patients often present with clinical and immunological features consistent with common variable immunodeficiency (CVID); however, additional defects in T and natural killer cells have been reported, widening the immunological phenotype. Multisystem autoimmunity is also frequently present in patients with damaging NFKB2 variants, causing endocrinopathies including central adrenal insufficiency, growth hormone deficiency, and hypothyroidism...
Source: Journal of Allergy and Clinical Immunology - December 7, 2017 Category: Allergy & Immunology Authors: Kesava A. Ramakrishnan, William Rae, Gabriela Barcenas-Morales, Yifang Gao, Reuben J. Pengelly, Sanjay V. Patel, Dinakantha S. Kumararatne, Sarah Ennis, Rainer D öffinger, Saul N. Faust, Anthony P. Williams Tags: Letter to the Editor Source Type: research

Simvastatin/Ezetimibe Therapy for Recalcitrant Alopecia Areata: An Open Prospective Study of 14 Patients.
Conclusion: The remission rate in this study was unsatisfactory. However, since the recruited patients had not responded to any other treatments for AA, simvastatin/ezetimibe can still be considered as an alternative treatment for recalcitrant AA. The total scores of the prognostic factors were statistically different between responders and non-responders. These results can be used to predict the outcome of treatment with simvastatin/ezetimibe and anticipate prognosis. PMID: 29200765 [PubMed] (Source: Annals of Dermatology)
Source: Annals of Dermatology - December 5, 2017 Category: Dermatology Tags: Ann Dermatol Source Type: research

A Distinct Cellular Basis for Early Cardiac Arrhythmias, The Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.
Conclusions: Deletion of Dsp under the transcriptional regulation of the CSPG4 locus led to lethal cardiac arrhythmias in the absence of cardiac dysfunction or fibroadiposis, palmoplantar keratosis, and alopecia, resembling the human cardiocutaneous syndromes. The findings offer a cellular basis for early cardiac arrhythmias in ACM patients and cardiocutaneous syndromes. PMID: 29018034 [PubMed - as supplied by publisher] (Source: Circulation Research)
Source: Circulation Research - October 10, 2017 Category: Cardiology Authors: Karmouch J, Zhou QQ, Miyake CY, Lombardi R, Kretzschmar K, Bannier-Hélaouët M, Clevers H, Wehrens XH, Willerson JT, Marian AJ Tags: Circ Res Source Type: research