Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

ABSTRACT: Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis. We present a case of a 37-year-old male patient with a long-documented history of juvenile idiopathic arthritis and uveitis, who developed an asymptomatic eruption of pink papules on the trunk and upper extremities. A biopsy demonstrated noncaseating, well-formed dermal granulomas with relatively sparse lymphocytic inflammation and Langerhans-type giant cells. Genetic testing confirmed a mutation in NOD2. Based on the patient's clinical history, histologic findings, genetic testing, the diagnosis of Blau syndrome was made.

Acute generalized exanthematous pustulosis associated with clindamycin in a patient with Hailey-Hailey disease.

A 61-year-old African-American female with moderately controlled Hailey-Hailey disease (HHD) presents to the emergency department with a rash and fever. One day prior to her presentation, she was started on oral clindamycin for a tooth extraction procedure. Her physical examination shows diffuse erythema on the trunk and extremities with multiple nonfollicular pustules. A punch biopsy of her upper extremity revealed intraepidermal acantholysis, neutrophilic spongiosis, and subcorneal pustules. The perivascular and interstitial superficial dermal infiltrate is mixed and composed of predominantly neutrophils, with lymphocytes and rare eosinophils. These findings suggest a superimposed acute generalized exanthematous pustulosis (AGEP) in the background of HHD. AGEP is a potentially severe cutaneous condition characterized by the abrupt onset of numerous nonfollicular pustules in a background of pruritic edematous erythroderma. To date, only two case reports have described AGEP in patients with HHD. Early diagnosis of AGEP is essential to initiate prompt and aggressive systemic therapy, prompt medication cessation, close monitoring for end-organ damage, and improve overall morbidity and mortality.

The Skin and Gut Microbiome in Hidradenitis Suppurativa: Current Understanding and Future Considerations for Research and Treatment.

Hidradenitis suppurativa (HS) is a chronic, inflammatory skin disease comprising painful abscesses, deep nodules, fistulas, and scarring predominantly in the axilla and groin. Bacterial colonization of HS lesions has been well characterized and may lead to chronic infection of lesions. While disease pathogenesis of HS is not fully understood, there is increasing evidence that microbial dysbiosis may be occurring in numerous locations, including the skin and gut. The skin-gut microbiome has been proposed as a mechanism by which inflammatory skin disorders, including HS, can be exacerbated. This is evidenced by HS patients being significantly more likely to develop inflammatory bowel disease as well as the well documented cutaneous manifestations in inflammatory bowel disease. In this review, we discuss the current literature regarding HS skin and gut microbiome research. Furthermore, we discuss further considerations for microbiome research in HS, including the potential role of bacterial metabolites in disease progression and future therapeutic avenues like probiotics.

Current Recommendations for the Systemic Treatment of Cutaneous Lupus Erythematosus During Pregnancy.

Cutaneous lupus erythematosus (CLE) is a heterogeneous autoimmune disease of the skin that commonly affects women of childbearing age. Some of the medications used in the treatment of CLE are safe in pregnancy, whereas others are contraindicated based on their teratogenic effects. We describe the most recent recommendations for the use of commonly prescribed CLE medications for those who are pregnant or plan on becoming pregnant.

Topical dapsone in the treatment of acne: a systematic review.

BACKGROUND: Acne is one of the most common dermatological disorders. Initial therapies for acne include topical retinoids, benzoyl peroxide, and topical clindamycin. However, patients who fail initial therapies may benefit from alternative topicals, including dapsone gel. OBJECTIVE: To analyze the current literature studying the efficacy of topical dapsone in the treatment of acne. METHODS: PubMed, Embase, and Cochrane Library were systematically searched for clinical trials examining the efficacy of topical dapsone in the treatment of acne. RESULTS: Fourteen studies were included in the analysis. Dapsone monotherapy showed a treatment success rate of 40.1-69.4% for dapsone gel 5% and 29.8-47.0% for dapsone gel 7.5% when used for 12-16 weeks. In all studies, inflammatory lesions decreased by a larger percentage than noninflammatory or total lesions. Dapsone gel was also studied in combination with various other acne treatments, including doxycycline, oral isotretinoin, benzoyl peroxide, and topical retinoids. While mild treatment-related adverse effects, most commonly consisting of skin irritation, occurred in 2.0-75.0% of participants, no major treatment-related adverse effects were reported. LIMITATIONS: Limitations of the study include variable treatment regimens making it difficult to compare results across studies. Additionally, adverse effects and skin irritation were reported differently, and potential selection biases exist in the randomized trials. CONCLUSION: Dapsone gel offers a safe and promising alternative therapy for patients with difficult to treat acne or those who experience adverse effects to first-line therapies.

Bullous Dermatoses and Quality of Life: A Summary of Tools to Assess Psychosocial Health.

Autoimmune bullous dermatoses (ABDs), such as pemphigus and bullous pemphigoid (BP), cause cutaneous lesions that are painful and disfiguring. These conditions affect a patient's ability to perform everyday tasks, and individual lesions can take years to heal. Multiple small studies have examined how these conditions affect a patient's lifestyle. We systematically reviewed the trials that have evaluated the mental health of patients with bullous dermatoses. Of the 13 studies assessed, 2 domains of interest were primarily evaluated: quality of life (QOL) and psychological state. Quality of life predominantly was analyzed using the Dermatology Life Quality Index (DLQI). To evaluate psychological state, the General Health Questionnaire (GHQ) primarily was utilized. This review informs providers and summarizes the various ways that ABDs affect mental health.

Long-term Physical and Psychological Outcomes of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.

IMPORTANCE: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is known to cause multiple end-organ complications in its acute phase, but less is known about the long-term association with patients' mental health and quality of life. OBJECTIVE: To examine the chronic physical and psychological sequelae affecting patients with SJS/TEN. DESIGN, SETTING, AND PARTICIPANTS: A survey study conducted at 11 academic health centers in the US evaluated 121 adults diagnosed with SJS/TEN by inpatient consultive dermatologists between January 1, 2009, and September 30, 2019. INTERVENTIONS: Patients completed a survey that included the following validated questionnaires: Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), Primary Care Post-Traumatic Stress Disorder Screen (PC-PTSD), and the 12-item Short Form Health Survey (SF-12). The survey also included questions created by the study team regarding fear, patient education, and long-term sequelae relevant to SJS/TEN. MAIN OUTCOMES AND MEASURES: Primary outcome measures were the percentage of patients reporting long-term physical sequelae; the percentage of patients with positive results on PHQ-9, GAD-7, and PC-PTSD screening; and the numeric score on the SF-12 (score of 50 defined as average physical and mental well-being). RESULTS: A total of 121 individuals (73 women [60.3%]; mean [SD] age, 52.5 [17.1] years) completed the survey (response rate, 29.2%). The most common long-term physical sequelae reported were cutaneous problems (102 of 121 [84.3%]), ocular problems (72 of 121 [59.5%]), and oral mucosal problems (61 of 120 [50.8%]). A total of 53.3% (64 of 120) of the respondents had results indicating depression on the PHQ-9, 43.3% (52 of 120) showed signs of anxiety on the GAD-7, and 19.5% had results indicating PTSD on the PC-PTSD. The mean (SD) SF-12 Physical Component Summary score was 42.4 (22.8), and the mean Mental Component Summary score was 46.1 (20.9). A total of 28.2% (33 of 117) of the respondents were unable to work, 68.1% (81 of 119) were fearful of taking new medications, and 30.0% (36 of 120) avoided taking prescribed medications for a diagnosed medical condition. CONCLUSIONS AND RELEVANCE: This survey study found that long-term physical sequelae, depression, and anxiety appear to be common in patients with SJS/TEN, with implications for health and well-being. Improved awareness of these complications may assist health professionals in offering medical care, counseling, and support to patients with SJS/TEN.