VEXAS syndrome with cutaneous nodules.

Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered. The clinical features of VEXAS syndrome are heterogeneous, including highgrade fever, polychondritis and skin lesions. In 2020, Beck DB et al described an original cohort of 25 patients, of whom 22 (88%) had cutaneous findings, namely, neutrophilic dermatitis, and vasculitis. We report a case of VEXAS syndrome and cutaneous nodules with confirmed UBA1 mutation.

A Retrospective Study of Idiopathic Granulomatous Mastitis Treatment and Outcomes.

Granulomatous mastitis (GM) is a rare, poorly characterized inflammatory disease with a broad differential diagnosis that includes both benign and malignant conditions such as infectious mastitis, sarcoidosis, and inflammatory breast cancer. The etiology of most cases is idiopathic (IGM). In this retrospective study, we present our experience of 31 patients with IGM, underscoring management and treatment outcomes.

A case of Wong-type dermatomyositis treated with rituximab and IVIG.

A 37-year-old woman presented to our rheumatology-dermatology clinic with a rash, muscle weakness and fatigue. She has had prior diagnoses of cutaneous lupus and lichen planus based on skin biopsies. She did not respond to topical steroids, hydroxychloroquine and dapsone. Clinically, she had sharply demarcated photo-distributed erythema over the upper back, chest and upper arms, along with hyperkeratotic follicular papules on bilateral upper arms, shoulders, posterior neck, behind the ears, chest including breasts, abdomen and right buttock. Investigations revealed a high titre ANA, elevated creatinine kinase, aldolase and positive anti-MJ/nuclear matrix protein 2 (NXP-2). A skin biopsy showed findings of connective tissue disease. The diagnosis of Wong-type dermatomyositis was made. She responded to therapy with mycophenolate mofetil, rituximab and IVIG.

Pruritus in Autoimmune Connective Tissue Diseases.

Pruritus in autoimmune connective tissue diseases is a common symptom that can be severe and affect the quality of life of patients. It can be related to disease activity and severity or occur independent of the disease. Appropriate therapy to control the itch depends on the etiology, and it is therefore essential to first work-up these patients for the underlying trigger.

Nonablative Fractional Laser Resurfacing for Acne Scarring in Patients With Fitzpatrick Skin Phototypes IV-VI.

BACKGROUND: There is a paucity of studies investigating laser resurfacing in Fitzpatrick skin phototypes (SPT) IV to VI. OBJECTIVE: To assess the efficacy and safety of fractional nonablative laser resurfacing in the treatment of acne scarring in patients with SPT IV to VI. METHODS AND MATERIALS: The authors conducted a randomized, investigator-blinded and rater-blinded, split-face comparative study of adults with SPT IV to VI and facial acne scars treated with 2 different density settings and the same fluence. RESULTS: Quantitative global scarring grading system (QGSGS) scores were significantly improved from baseline at 16 and 24 weeks (p = .0277). Improvements in QGSGS scores after higher and lower density treatments were statistically similar (p = .96). The live-blinded dermatologist, the blinded dermatologist photoraters, and the patients rated scars as being significantly more improved by visual analog scale at weeks 16 and 24 compared with baseline (p < .001) for both treatment densities. Five of 7 and 3 of 7 patients in the higher and lower density group, respectively, experienced mild or moderate hyperpigmentation as an investigator observed site reaction. CONCLUSION: The nonablative 1550-nm fractional laser is safe and efficacious in treating acne scaring in Fitzpatrick skin types IV to VI. Self-limited postinflammatory hyperpigmentation was a common occurrence, especially with higher treatment densities.

Tumor Necrosis Factor Inhibitor Primary Failure Predicts Decreased Ustekinumab Efficacy in Psoriasis Patients.

BACKGROUND: Additional studies are needed to examine the efficacy of ustekinumab in psoriasis patients who have previously been exposed to tumor necrosis factor inhibitors (TNFi). OBJECTIVE: To examine the predictive effect of TNFi primary failure and the number of TNFi exposures on the efficacy of ustekinumab in psoriasis treatment. METHODS: This retrospective study examined 44 psoriasis patients treated at the Tufts Medical Center Department of Dermatology between January 2008 and July 2014. Patients were selected if they were treated with ustekinumab and had ≥ 1 previous TNFi exposure. The following subgroups were compared: patients with vs without a previous TNFi primary failure, and patients with one vs multiple previous TNFi exposures. The efficacy measure used was the previously validated Simple Measure for Assessing Psoriasis Activity (S-MAPA), which is calculated by the product of the body surface area and physician global assessment. The primary outcome was the percentage improvement S-MAPA from course baseline at week 12 of ustekinumab treatment. Secondary outcomes were the psoriasis clearance, primary failure, and secondary failure rates with ustekinumab treatment. RESULTS: Patients with a previous TNFi primary failure had a significantly lower percentage improvement in S-MAPA score at week 12 of ustekinumab treatment compared with patients without TNFi primary failure (36.2% vs 61.1%, P=.027). Multivariate analysis demonstrated that this relationship was independent of patient demographics and medical comorbidities. Patients with multiple TNFi exposures had a non-statistically significant lower percentage S-MAPA improvement at week 12 (40.5% vs 52.9%, P=.294) of ustekinumab treatment compared with patients with a single TNFi exposure. CONCLUSIONS: Among psoriasis patients previously exposed to TNFi, a history of a previous TNFi primary failure predicts a decreased response to ustekinumab independent of patient demographics and medical comorbidities.

Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine.

BACKGROUND: Benign chronic familial pemphigus (BFCP) is an autosomal dominant dermatosis characterized by flares of painful and often debilitating blistering lesions in high friction areas of the body such as the groin, axillae, lateral neck, and intergluteal cleft. Limited knowledge of its pathophysiology has made treatment of BFCP a considerable challenge and efficacy with current first line therapies, topical corticosteroids and antibiotics, is variable. CASE REPORT: We present a case of this disease in a 52 year old woman that has responded dramatically to the addition of oral cyclosporine to her existing regimen of oral acitretin, with significant improvement of skin lesions, mobility, and quality of life. Cyclosporine's mechanism of action in BFCP is poorly understood, although it possibly acts through inhibition of proinflammatory cytokines in keratinocytes or modulation of intracellular calcium. BFCP, the use of cyclosporine for its treatment, and possible mechanisms of action of cyclosporine are reviewed.

Remission of refractory benign familial chronic pemphigus (hailey-hailey disease) with the addition of systemic cyclosporine.

BACKGROUND: Benign chronic familial pemphigus (BFCP) is an autosomal dominant dermatosis characterized by flares of painful and often debilitating blistering lesions in high friction areas of the body such as the groin, axillae, lateral neck, and intergluteal cleft. Limited knowledge of its pathophysiology has made treatment of BFCP a considerable challenge and efficacy with current first line therapies, topical corticosteroids and antibiotics, is variable. CASE REPORT: We present a case of this disease in a 52 year old woman that has responded dramatically to the addition of oral cyclosporine to her existing regimen of oral acitretin, with significant improvement of skin lesions, mobility, and quality of life. Cyclosporine's mechanism of action in BFCP is poorly understood, although it possibly acts through inhibition of proinflammatory cytokines in keratinocytes or modulation of intracellular calcium. BFCP, the use of cyclosporine for its treatment, and possible mechanisms of action of cyclosporine are reviewed.

The changing pattern of upper gastro-intestinal lesions in southern Saudi Arabia: an endoscopic study.

BACKGROUND/AIM: Dyspepsia is a common gastrointestinal disorder and is the most common indication for upper gastrointestinal endoscopy (UGIE). In recent years, it has been observed in several centers that there is a change in the causes of dyspepsia as revealed by UGIE. Our main objectives were: (1) To study the pattern of upper gastrointestinal pathology in patients with dyspepsia undergoing upper endoscopy; (2) Compare that with the pattern seen 10-15 years earlier in different areas of KSA. MATERIALS AND METHODS: Retrospective study of all UGI endoscopies performed at Aseer Central Hospital, Abha, Southern Saudi Arabia during the years 2005-2007 on patients above 13 years of age. Patients who underwent UGIE for reasons other than dyspepsia were excluded. The analysis was performed using the SPSS 14 statistical package. RESULTS: A total of 1,607 patients underwent UGI endoscopy during the three-year study period (age range, 15-100). There were 907 males (56.4%) and 700 female (43.6%). Normal findings were reported on 215 patients (14%) and the majority had gastritis (676 = 42%), of whom 344 had gastritis with ulcer disease. Moreover, 242 patients (15%) had gastro-esophageal reflux (GERD), with or without esophagitis or hiatus hernia. Also, a total of 243 patients had duodenal ulcer (DU) (15%) while only 12 had gastric ulcer (0.7%). DISCUSSION AND CONCLUSION: There is clear change in the frequency of UGIE lesions detected recently compared to a decade ago with an increasing prevalence of reflux esophagitis and hiatus hernia. This could be attributed to changes in lifestyle and dietary habits such as more consumption of fat and fast food, increased prevalence of obesity, and smoking. These problems should be addressed in order to minimize the serious complications of esophageal diseases.