Rare Diseases

FRIDAY, April 19, 2024 (HealthDay News) -- Cutaneous manifestations of myelodysplastic syndrome (MDS) are described in a perspective piece published in the April issue of Skin Health and Disease.Xiang Li Tan, M.B.B.S., from St. George's University Hospitals NHS Foundation Trust in London, and colleagues conducted a systematic review to examine the prevalence, types, and prognostic and therapeutic significance of nonspecific cutaneous manifestations of MDS. Data were included from 88 articles: 67 case reports and 21 case series, with a total of 134 patients.The researchers identified six common cutaneous manifestations: neutrophilic dermatoses, vasculitis, granulomatous, connective tissue disease (CTD), panniculitis, immunobullous, and other. Cutaneous features occurred at the time of MDS diagnosis, preceded diagnosis, or occurred after diagnosis (25.3, 34.7, and 40.0 percent, respectively). Poor prognosis was seen, with 34.1 percent progressing to acute myeloid leukemia (AML) and 40.2 percent proving fatal. Of those with MDS who progressed to AML, 50 percent had neutrophilic dermatoses. In 39.2 percent of neutrophilic dermatoses, 50 percent of vasculitis, 62.5 percent of granulomatous, and 14.3 percent of CTD, MDS was fatal (median time from onset of cutaneous manifestation: 12.0, 7.5, 15.5, and 7.0 months, respectively)."Recognition of patterns of cutaneous features in MDS will improve early diagnosis and risk stratification according to subtype and associated prognosis," the authors write.<a target="_blank" rel="noopener noreferrer" href="https://onlinelibrary.wiley.com/doi/10.1002/ski2.323">Abstract/Full Text</a>

Common manifestations include neutrophilic dermatoses, vasculitis, granulomatous, connective tissue disease

Review Explores Cutaneous Manifestations of Myelodysplastic Syndrome

WEDNESDAY, Jan. 31, 2024 -- Dapsone and sulfasalazine are beneficial adjuvant therapies in pemphigus vulgaris, according to a review published in the January issue of SKIN.Kevin H. Nguyen, from the College of Osteopathic Medicine of the Pacific in Pomona, California, and colleagues examined the use of dapsone and sulfasalazine in the treatment of pemphigus vulgaris in a systematic review. All studies with three or more patients were reviewed; clinical improvement was defined as disease control or complete remission and as a reduction of corticosteroids to ≤7.5 mg/day when adjuvant therapy was initiated in uncontrolled and controlled disease, respectively.Data were included from 11 studies with 75 patients treated with dapsone and 66 with sulfasalazine. The researchers found that all six patients who received dapsone monotherapy had clinical improvement. Sixty-nine patients received adjuvant dapsone; clinical improvement occurred in 58 percent. Eighty-six percent of the 57 patients receiving sulfasalazine as an adjuvant to intravenous corticosteroids had clinical improvement. All nine patients receiving sulfasalazine after rituximab showed clinical improvement."Although our conclusions are limited by the largely retrospective nature of studies included, our review synthesizes existing evidence for dapsone and sulfasalazine -- two potentially underutilized adjuvant therapies that clinicians can add to their arsenal when managing pemphigus vulgaris," the authors write.

Evidence from review supports efficacy of dapsone and sulfasalazine as adjuvant therapies

Dapsone, Sulfasalazine Beneficial as Adjuvants in Pemphigus Vulgaris

WEDNESDAY, Jan. 24, 2024 -- For patients with pemphigus, rituximab plus prednisone (Ritux 3 regimen) is associated with long-term sustained complete remission, according to a study published online Jan. 24 in JAMA Dermatology.Billal Tedbirt, M.D., from Normandie University in Rouen, France, and colleagues examined the long-term efficacy and safety of Ritux 3 treatment in a seven-year follow-up study of the Ritux 3 trial involving 90 patients with pemphigus. Patients were initially randomly assigned to the rituximab plus prednisone group or prednisone-alone group; 44 and 39, respectively, were evaluated at the end of follow-up.The researchers found that 93 and 39 percent of patients from the rituximab plus prednisone and prednisone-alone groups, respectively, achieved complete remission without corticosteroids at any time during follow-up. Five- and seven-year disease-free survival occurred in 76.7 and 72.1 percent of patients, respectively, in the rituximab group compared with 35.3 and 35.3 percent in the prednisone-alone group; relapses occurred in 42.2 and 83.7 percent, respectively. Shorter disease-free survival occurred for patients who received rituximab as second-line treatment compared with those who received rituximab as first-line. Fewer severe adverse events occurred in the rituximab plus prednisone versus prednisone-alone groups (31 versus 58; 0.67 and 1.32 per patient, respectively)."This study showed that the first-line treatment of patients with pemphigus with rituximab was associated with sustained complete remission without corticosteroids therapy up to seven years after the start of treatment," the authors write.Several authors disclosed ties to the pharmaceutical industry.

Relapses occurred in 42.2 and 83.7 percent of patients receiving rituximab plus prednisone versus prednisone alone

Rituximab + Prednisone Yields Lasting Complete Remission in Pemphigus

FRIDAY, Dec. 1, 2023 (HealthDay News) -- Ichthyosis is associated with an increased likelihood of depression and anxiety, according to a research letter published online Oct. 18 in the Journal of the American Academy of Dermatology.Gloria Chen, from the Yale School of Medicine in New Haven, Connecticut, and colleagues investigated the relationship between ichthyosis and clinical diagnoses of depression and anxiety. The analysis included 334 congenital ichthyosis cases and 1,336 matched controls identified through the All of Us Research Program.The researchers found that individuals with ichthyosis were more likely to have diagnoses of depression (41.9 versus 23.8 percent) and anxiety (15.9 versus 7.0 percent) than matched controls. When adjusting for smoking status and hypothyroidism, ichthyosis was significantly associated with depression (odds ratio, 2.33) and anxiety (odds ratio, 2.48)."Our findings of increased risk of depression and anxiety in individuals with ichthyosis highlight the need for routine quality of life and mental health assessments in this population as a standard of care," the authors write. "Attention to this important aspect of these disorders is essential for optimal care of the entire patient."

Authors say results suggest the need for increased screening in patients with ichthyosis

Ichthyosis Tied to Increased Risk for Depression, Anxiety

TUESDAY, Oct. 3, 2023 (HealthDay News) -- Sexual and gender-minority (SGM) patients with chronic inflammatory skin diseases (CISDs) are more likely to experience cost and noncost barriers to care, according to a study published online Sept. 27 in JAMA Dermatology.Michael R. Nock, from the Yale School of Medicine in New Haven, Connecticut, and colleagues conducted a cross-sectional study of health care access and utilization survey data to compare the prevalence of cost and noncost barriers to care among SGM and non-SGM adult patients with CISDs. Data were included for 19,743 patients with CISDs: 1,877 SGM patients and 17,866 non-SGM patients.The researchers found that SGM patients with CISDs were significantly more likely to delay specialist care, mental health care, and filling a prescription because of cost compared with non-SGM patients (adjusted odds ratios, 1.23, 1.62, and 1.30, respectively). Compared with non-SGM patients, SGM patients with CISDs were significantly more likely to delay care due to transportation issues (adjusted odds ratio, 1.49) and not having a health care practitioner who shares the same background with regard to race and ethnicity, religion, native language, sexual orientation, and gender identity (adjusted odds ratio, 1.39). SGM patients with CISDs were also more likely to report not always being treated with respect by their health care practitioners compared with non-SGM patients (adjusted odds ratio, 1.47)."Dermatologists and other health care practitioners caring for SGM patients with CISDs have an important role in helping to address these barriers and larger systemic issues for SGM patients at both the patient and system levels," the authors write.Two authors disclosed ties to the pharmaceutical industry.

Cost and noncost barriers more likely for sexual and gender-minority patients with chronic inflammatory skin diseases

 Sexual, Gender Minorities With Chronic Skin Diseases More Likely to Face Barriers to Care

WEDNESDAY, June 21, 2023 (HealthDay News) -- Eosinophilic cellulitis seems to be a type 2 inflammatory disease, with preferential activation of the Janus kinase (JAK)1/JAK2-signal transducer and activator of transcription (STAT)5 pathways, according to research published online June 21 in JAMA Dermatology.Johanna Morot, from the Université Claude Bernard Lyon in France, and colleagues examined the nature of eosinophilic cellulitis inflammation and other cellular signal transduction pathways that are activated in the context of eosinophilic cellulitis in a case series from January 2018 to December 2021. Samples were included from 14 patients with eosinophilic cellulitis and eight healthy controls.The researchers found that in eosinophilic cellulitis lesions, there was marked type 2 inflammation (chemokines CCL17, CCL18, and CCL26, and interleukin 13), with preferential activation of the JAK1/JAK2-STAT5 pathways. Complete clinical remission of skin lesions was observed after one month of baricitinib treatment in the one index patient with refractory eosinophilic cellulitis."These findings suggest that eosinophilic cellulitis is a type 2 inflammatory disease with preferential activation of the JAK1/JAK2-STAT5 pathways," the authors write. "Together with the clinical response to baricitinib, our data advocate for the development of JAK1/JAK2 targeting treatment approaches in eosinophilic cellulitis and other eosinophilic diseases."Several authors disclosed ties to pharmaceutical companies, including Lilly, the manufacturer of baricitinib.

Preferential activation of JAK1/JAK2-STAT5 pathways observed in eosinophilic cellulitis

Eosinophilic Cellulitis Seems to Be Type 2 Inflammatory Disease

WEDNESDAY, June 21, 2023 -- Currently used approaches to identify culprit drugs in Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) may overlabel patients as allergic to likely nonculprit drugs and may also miss possible culprit drugs, according to a study published online June 21 in JAMA Dermatology.Dayan J. Li, M.D., Ph.D., from Brigham and Women's Hospital in Boston, and colleagues examined patient allergy list outcomes and current approaches in identifying culprit drugs in a retrospective cohort study spanning 18 years and including 48 patients with clinically and histologically confirmed cases of SJS/TEN overlap and TEN.The researchers found that the mean number of drugs taken per patient was 6.5 at disease onset. Seventeen patients were labeled as allergic to a single culprit drug; however, across all patients, 104 drugs were added to allergy lists. Physicians' approaches mainly relied on heuristic identification of high-notoriety drugs and drug exposure timing. Sensitivity was improved using a vetted database for drug risk. In 28 cases, Algorithm for Drug Causality for Epidermal Necrolysis scoring was discordant, resulting in an additional nine drugs being labeled that were missed by physicians and clearing 43 drugs that physicians labeled as allergens. Twenty cases could potentially have been affected by human leukocyte antigen testing. There was limited consideration of infection as a culprit."It is important to identify a culprit drug in SJS/TEN as accurately as possible. In the absence of a criterion standard laboratory test, the onus is on clinicians to make that determination," the authors write. "This study's data suggest that culprit drug identification is commonly very challenging."Two authors disclosed ties to the biopharmaceutical industry; one had a provision patent issued outside the submitted work.

Algorithm for Drug Causality for Epidermal Necrolysis scoring was discordant for 28 cases, clearing 43 drugs labeled as allergens

 Current Approaches Inadequate to ID Culprit Drugs in Stevens-Johnson Syndrome

In Episode 40 of Derms and Conditions, our host James Q. Del Rosso, DO sits down with Whitney A. High, MD, JD, a Professor of Dermatology and Pathology at the University of Colorado. The two discuss blastic plasmacytoid dendritic cell neoplasm (BPDCN), a highly aggressive and fatal malignancy that can be very challenging to diagnose.

Sponsor <img src="https://d18uhdhjoz8by6.cloudfront.net/Stemline_logo_s_7bf9f61c83.png" alt="Stemline" srcset="https://d18uhdhjoz8by6.cloudfront.net/thumbnail_Stemline_logo_s_7bf9f61c83.png 245w," sizes="100vw" width="245px">In Episode 40 of Derms and Conditions, our host James Q. Del Rosso, DO sits down with Whitney A. High, MD, JD, a Professor of Dermatology and Pathology at the University of Colorado. The two discuss blastic plasmacytoid dendritic cell neoplasm (BPDCN), a highly aggressive and fatal malignancy that can be very challenging to diagnose.Dermatologists are in a great position to make the initial diagnosis of this rare disease as it involves the skin in 80-90% of cases. Dr. High discusses several clinical pearls about BPDCN including how it presents, important considerations for the dermatopathologist, and the best techniques to biopsy the lesion in order to maximize diagnostic yield. Finally, he reviews the next steps in disease management once the diagnosis is made. Dermatologists can have a significant impact on patient outcomes with BPDCN by making the diagnosis early, so tune in to this episode to learn more! FINANCIAL DISCLOSURES: JAMES DEL ROSSO, DO: CONSULTANT/ADVISOR Abbvie, Aclaris, Almirall, Amgen, Arcutis, Bausch Health (Ortho Dermatology), BioFrontera, BioPharmX, Bristol-Myers-Squibb, Cassiopea, Dermata, Dermavant, Encore, EPI Health, Evommune, Ferndale, Galderma, Incyte, JEM Health, Leo Pharma, La Roche Posay, Lilly (Dermira), MC2, Novan, Pfizer, Regeneron, Sanofi-Genzyme, SolGel, Sonoma (IntraDerm), Sun Pharma, Trevi, UCB, Verrica, Vyne (Foamix; Menlo) SPEAKER BUREAU Aclaris, Almirall, Amgen, Arcutis, Bausch Health (Ortho Dermatology), EPI Health, Ferndale, Galderma, Genentech, JEM Health, Leo Pharma, La Roche Posay, Lilly (Dermira), Pfizer, Regeneron, Sanofi-Genzyme, Sun Pharma, UCB, Verrica, Vyne (Foamix; Menlo) RESEARCH INVESTIGATOR Aclaris, Almirall, Amgen, Anaptys Bio, Arcutis, Athenex, Bausch Health (Ortho Dermatology), BioPharmX, Biorasi, Botanix, Brickell, Cara Therapeutics, Cassiopea, Dermavant, EPI Health, Ferndale, Galderma, Incyte, Leo Pharma, Lilly (Dermira), Novan, Pfizer, Ralexar, Regeneron, SolGel, Sun Pharma, UCB, Verrica, Vyne (Foamix; Menlo). Whitney A. High, MD, JD No financial relationships to disclose&nbsp;

Derms and Conditions Podcast

Bringing a Rare Disease to Light

Rare Diseases in Dermatology: Epidermolysis Bullosa 

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, Charlie Dunn, MD, speaks with Brett Kopelan, Executive Director of debra of America, a nonprofit organization dedicated to improving the lives of those impacted by epidermolysis bullosa (EB) and supporting the clinicians who treat this condition.&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-scle-and-dermatomyositis">Watch Part 1</a> to hear Dr Todd Schlesinger discuss SCLE and dermatomyositis.<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-tuberous-sclerosis-complex">Watch Part 2</a> to hear Dr Naiem Issa discuss tuberous sclerosis complex and a helpful treatment tip.<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-new-and-emerging-therapies">Watch Part 3</a> to hear Dr James Del Rosso discuss new and emerging therapies for congenital ichthyoses, EB, and facial angiofibromas.About debra of America&nbsp;Founded in 1980, debra of America emerged from the dire need for institutional and public knowledge about EB. debra, which now comprises over 52 autonomous branches worldwide, works to improve the quality of life for all patients, families, caregivers, and clinicians who manage EB through programs and services, educational resources, and research funding.&nbsp;Resources for patients and clinicians&nbsp;debra of America's mission is to enhance the lives of those living with EB through patient services, industry partnerships, and support for clinicians and researchers engaged in innovative research. Recognizing the challenges faced by medical professionals unfamiliar with treating rare diseases, debra offers programs such as the EN Nurse Educator Program. The EB Nurse Educator serves as a trusted source of accurate information for those living with EB, their families, and the medical community. debra estimates that 20% of the calls the EB Nurse Educator receives come from medical professionals seeking guidance on how to care for patients with EB and resources to support them.&nbsp;The debra website also boasts a robust How To section, which provides resources to guide patients and caregivers in making informed decisions surrounding proper EB care. These guides cover topics such as caring for wounds and blisters, caring for newborns, preparing baths, recognizing infection, choosing products, and more.&nbsp;Physician resources and multidisciplinary approaches&nbsp;In addition to patient-focused resources, debra also collaborates with health care professionals to cowrite clinical best practice guidelines that address anesthesia, pain management, GI issues, social and emotional well-being, and more. The complex nature of EB often necessitates a multidisciplinary approach to care, involving dermatology, gastroenterology, physical therapy, occupational therapy, pain management, psychology, and cardiology, and debra curates services for all aspects of care.&nbsp;Emerging therapeutics&nbsp;Exciting developments in EB therapeutics include the recent approval of the first redosable gene therapy and a topical wound healing agent. Anticipated approval for a second gene therapy, an ex-vivo approach, in May 2024 adds to the optimism. debra of America plays a crucial role in bringing the patient voice into drug development for EB, potentially easing the regulatory pathway and reducing the time it takes for new therapies to get to market.&nbsp;An appeal to the dermatology community&nbsp;EB is traditionally thought of as a pediatric condition within the dermatology community. As emerging therapies extend the lifespan of patients with EB, debra urges dermatology professionals to pay increased attention to adult care and treatment. With only one adult multidisciplinary center in the country, there is a need for the dermatology community to embrace the challenges associated with transitioning from pediatric to adult EB care.&nbsp;Interested in getting involved with debra? Check out opportunities <a target="_blank" rel="noopener noreferrer" href="https://www.debra.org/get-involved">here.&nbsp;</a>Download How To guides for patients and clinicians <a target="_blank" rel="noopener noreferrer" href="https://www.debra.org/how-to">here.</a>Read about the EB Nurse Educator Program <a target="_blank" rel="noopener noreferrer" href="https://www.debra.org/get-help/nurse">here.&nbsp;</a>Download the Skin and Wound Care in Epidermolysis Bullosa Best Practice Guidelines <a target="_blank" rel="noopener noreferrer" href="https://www.debra.org/sites/default/files/howto/More%20EB%20Guides/SkinWoundCare-CPG.pdf">here.</a>

Rare Diseases in Dermatology: New and Emerging Therapies 

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, James Q Del Rosso, DO, reviews some new and emerging therapies for congenital ichthyoses, epidermolysis bullosa, and facial angiofibromas related to tuberous sclerosis.&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-scle-and-dermatomyositis">Watch Part 1</a> to hear Dr Todd Schlesinger discuss subacute cutaneous lupus erythematosus and dermatomyositis.<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-tuberous-sclerosis-complex">Watch Part 2</a> to hear Dr Naiem Issa discuss tuberous sclerosis complex and a breakthrough new treatment.An emerging therapy for congenital ichthyoses&nbsp;Dr Del Rosso begins by reviewing an emerging treatment for congenital ichthyoses, a group of rare genetic keratinization disorders that leads to dry, thickened, and scaling skin and requires lifelong management.&nbsp;The Phase 3 ASCEND study is currently underway and focusing on 2 moderate-to-severe subtypes, lamellar ichthyosis and X-linked ichthyosis, that affect about 80,000 individuals in the United States. The ASCEND study is investigating the efficacy and safety of a topical isotretinoin, TMB-001, in a patented special delivery system.&nbsp;A topical formulation of isotretinoin may help reduce systemic absorption, potentially allowing for chronic use over larger areas of the body and shows promise for those affected by congenital ichthyoses.&nbsp;A new approval for epidermolysis bullosa&nbsp;Dr Del Rosso also lauds a newly approved therapy for epidermolysis bullosa, a topical gel birch triterpenes for the treatment of partial thickness wounds in patients 6 months and older with junctional epidermolysis bullosa and dystrophic epidermolysis bullosa.&nbsp;As the first FDA-approved treatment for wounds associated with junctional epidermolysis bullosa, topical gel birch triterpenes is a promising development for patients facing daily challenges from open wounds, one of the most visible and difficult-to-manage symptoms of epidermolysis bullosa.&nbsp;A topical option for facial angiofibromas&nbsp;Another recent approval making progress for rare diseases in dermatology is a topical sirolimus gel for the treatment of facial angiofibromas associated with tuberous sclerosis. By inhibiting the mTOR pathway that leads to cellular proliferation, this therapy, approved for 6 years of age and older, is a significant step forward in managing cutaneous manifestations of tuberous sclerosis.

Rare Diseases in Dermatology: Tuberous Sclerosis Complex 

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, Naiem Issa, MD, PhD, gives his perspective on tuberous sclerosis complex (TSC) along with a helpful treatment tip.&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-scle-and-dermatomyositis">Watch Part 1</a> to hear Dr Todd Schlesinger discuss subacute cutaneous lupus erythematosus and dermatomyositis.Understanding tuberous sclerosis complex&nbsp;Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting from mutations in the TSC1 and TSC2 genes. It follows an autosomal dominant pattern and affects approximately 50,000 individuals in the United States. TSC is difficult to treat and requires a multidisciplinary, multimodal treatment paradigm.&nbsp;TSC presents with multiple comorbidities, including central nervous system abnormalities, brain tumors causing seizures or developmental delays, angiomyolipoma and kidney cysts, cardiac rhabdomyelomas, pulmonary cysts, and lymphangioleiomyomatosis.&nbsp;Cutaneous manifestations include periungual fibromas, typically developing around the feet, and facial angiofibromas. Dermatologists play a crucial role in addressing patients' concerns related to facial angiofibromas, one of the most visible manifestations of TSC.&nbsp;Challenges with traditional treatments&nbsp;Facial angiofibromas are often a primary concern for patients with TSC, as they can present with hundreds of lesions. Traditionally, treatment options have been limited to destructive modalities such as curettage, laser therapy, and excisions, all of which come with side effects.&nbsp;Role of mTOR signaling in TSC&nbsp;The pathogenesis of TSC involves the dysregulation of the mammalian target of rapamycin (mTOR) signaling pathway. Inhibition of mTOR has shown promise in addressing both cutaneous and systemic effects of TSC. Oral sirolimus has been a standard therapeutic approach, but recent advancements have introduced a topical sirolimus 0.2% gel approved for ages 6 and above.&nbsp;Topical sirolimus gel for facial angiofibromas&nbsp;The approval of topical sirolimus gel is a significant advancement in TSC treatment. As a nondestructive alternative that inhibits mTOR locally, it provides a targeted treatment that minimizes side effects associated with systemic administration.&nbsp;Dr Issa encourages dermatologists to consider incorporating topical sirolimus gel into their treatment armamentarium for patients with TSC who present with multiple facial angiofibromas. This novel approach not only enhances the management of the cutaneous manifestations of TSC but also aligns with a patient-centered approach by minimizing the impact of side effects associated with traditional therapies.

Rare Diseases in Dermatology: SCLE and Dermatomyositis 

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, Todd Schlesinger, MD, FAAD, FASMS, gives his perspective on subacute cutaneous lupus erythematosus (SCLE) and dermatomyositis.&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-tuberous-sclerosis-complex">Watch Part 2</a> to hear Dr Naiem Issa discuss tuberous sclerosis complex and a breakthrough new treatment.Subacute cutaneous lupus erythematosus&nbsp;SCLE is a condition linked to systemic lupus erythematosus in 50% of patients; it may also be associated with Sjögren’s syndrome. SCLE manifests as a small, red, scaly papular eruption in sun-exposed areas, progressing to a psoriasiform or annular lesion. This photosensitive dermatosis is nonscarring and nonatrophic, with lesions healing without scarring but potentially leaving some dyspigmentation. Commonly affected regions include the shoulders, forearms, neck, and upper torso. Around 50% of patients with SCLE patients experience joint involvement, with often symmetrical arthralgias usually affecting small joints like wrists and hands.&nbsp;Dr Schlesinger notes that SCLE is a notably challenging condition in dermatology but expresses hope for new treatments in the pipeline, potentially ones that leverage existing medications used for psoriasis and atopic dermatitis.&nbsp;Dermatomyositis&nbsp;Dermatomyositis is a rare, idiopathic inflammatory disorder primarily affecting the skin and muscles but sometimes also affecting the joints, esophagus, lungs, and heart. It falls within the category of myositis, a rare group of diseases characterized by inflamed muscles, and poses challenges for dermatologists due to its complexity in both diagnosis and treatment.&nbsp;The condition is characterized by distinctive skin findings, including a heliotrope rash around the eyes, Gottron papules over the joints, and facial erythema over the cheeks and nasal bridge. Muscular involvement often leads to weakness, particularly in the proximal muscles.&nbsp;Treating patients with dermatomyositis and related myositic disorders poses diagnostic and therapeutic challenges, and Dr Schlesinger comments that this condition, along with the broader category of myositic disorders, has not received sufficient attention. He looks forward to innovation in this area to improve approaches to diagnosis and treatment.&nbsp;Overlapping pathways&nbsp;Dr Schlesinger also emphasizes the overlapping inflammatory pathways that SCLE and dermatomyositis share with the more common dermatologic conditions, especially alopecia areata, atopic dermatitis, and psoriasis.&nbsp;With a focus on research, innovation, and collaborative efforts, dermatologists can work to address the diagnostic and therapeutic challenges associated with these rare diseases in dermatology.

Rare Diseases Update 

Ruth Ann Vleugels, MD, took us through a review of rarer dermatologic conditions and new therapeutics to be aware of when treating these patients. Starting with DLE, Dr Vleugels reviewed 2 cases that had exhausted the typical treatment ladder from photoprotection through antimalarials and oral steroids and finally to IVIG or rituximab. She presented a promising new drug, anifrolumab, an anti-type I IFN receptor monoclonal antibody, which has recently garnered approval for SLE. However, in the TULIP-2 trial, it showed promising results for CLE as well in patients who had tried and failed many other systemic medications, indicating this may play a role earlier in the treatment algorithm than systemics with more side effects like rituximab. Not only did mucocutaneous lesions show vast improvement, but almost half of patients had more than a 50% reduction in CLASI score, a measurement of cutaneous lupus activity, compared to 25% on placebo (total n=89). Dosing is 300-mg IV every 4 weeks, which has also been successfully used in adolescent studies.&nbsp; She then moved on to reviewing a few different options for dermatomyositis, including IVIG, which demonstrates superiority from placebo within 4 weeks and is now FDA approved for the condition, and tofacitinib, a JAK inhibitor. Larger randomized controlled trials are required to demonstrate efficacy of JAK inhibitors for dermatomyositis, but open-label pilot studies and retrospective studies have shown promising results. Given the strong type 1 interferon signature in dermatomyositis, JAK inhibitors may be a viable option to interrupt this pathway. Dazukibart, a monoclonal antibody directed against IFN-beta, is currently undergoing phase 3 trials for dermatomyositis. Anifrolumab also demonstrates evidence in the treatment of this disease.&nbsp; Lastly, Dr Vleugels reviewed the use of tofacitinib for cutaneous sarcoidosis. JAK inhibitors may be especially useful in treating overlapping autoimmune conditions.&nbsp;

Leprosy Unmasked: A Dermatologic Review for World Leprosy Day 

In recognition of World Leprosy, join Charlie Dunn, MD, for this episode of Topical Conversations to hear a dermatologist’s overview of leprosy, shedding light on the progress made, emerging insights, and the vital role dermatologists play in recognizing, treating, and caring for patients affected by this rare disease.&nbsp;Reviewing the basics&nbsp;Leprosy, also known as Hansen's disease, is caused by the slow-growing mycobacterium leprae complex, which tends to involve the skin and peripheral nerves.&nbsp;The global health perspective&nbsp;Despite tremendous advancements in recognition and treatment, leprosy remains a significant global health concern. Annually, approximately 200,000 cases are diagnosed worldwide.&nbsp;The United States, while experiencing relatively low case counts, has seen a notable geographical incidence shift, particularly in the southeast. In 2020, more than one-fifth of cases were identified in Florida, with 80% of those cases occurring in eastern Florida. The reasons behind the increase in geographic incidences are not yet identified but may be related to a shift in disease transmission.&nbsp;Disease transmission&nbsp;Due to the slow-growing nature of the bacteria, transmission is not fully understood. Transmission of leprosy is historically linked to genetic susceptibility and prolonged exposure to someone with untreated disease via respiratory droplets.&nbsp;However, there are an increasing number of cases in the US where close contact cannot be established. In these cases, transmission is thought to occur either through prolonged travel within countries with high rates of the disease or through zoonotic exposure.&nbsp;Zoonotic exposure is thought to be key to the increased prevalence of leprosy in the southeastern United States particularly via nine-banded armadillos, which are known reservoirs for mycobacterium leprae strains known to infect humans.&nbsp;Clinical presentation&nbsp;Leprosy manifests in diverse ways, largely depending on the bacteria burden and the infected person’s immune response. Clinical manifestations can be considered across 2 ends of a spectrum. One&nbsp;end is tuberculoid leprosy, where there is a robust immune response to the disease. These patients tend to have a small number of well-demarcated patches or plaques that are lightly pigmented, may be red or rust-colored in the center, and have a degree of sensation abnormalities. Patients may also present with poor hair growth or abnormal sweating.&nbsp;On the other end is lepromatous leprosy, where there is no apparent resistance to mycobacterium leprae. Patients present with poorly demarcated, nodular lesions on all parts of the body.&nbsp;With nerve involvement, patients may present with numbness or tingling of the hands and feet, tender, enlarged peripheral nerves, and lumps or swelling of the earlobes or face. If these nerve findings progress, they can lead to hand and foot weakness, facial paralysis, loss of eyelashes or eyebrows, and leonine facies.&nbsp;Diagnosing leprosy&nbsp;Diagnosis is established via a skin biopsy, ideally from the leading edge of a lesion that demonstrates the bacterial within a cutaneous nerve. In tuberculoid, or paucibacillary, leprosy, this can be challenging; multiple biopsies may be needed, and diagnosis may need to be inferred from clinical or histopathologic clues.&nbsp;One vital aspect of diagnosis to remember is that leprosy is a reportable condition at both the state and federal level. The National Hansen’s Disease Program (NHDP), once notified, provides telemedicine visits and medications for patients and professional consultation for clinicians, all at no cost.&nbsp;Treating leprosyContrary to popular misconceptions, leprosy is highly treatable, with patients becoming noninfectious within days after starting antibiotics. Monthly directly observed therapy (DOT) is recommended by the NHDP, consisting of treatment with rifampin, moxifloxacin or ofloxacin, and minocycline.&nbsp;A key unique component to treating leprosy is screening all patients, at the time of diagnosis, regularly during treatment, and after treatment, for immunologic reactions. These reactions can result in severe nerve injury if not treated promptly.&nbsp;Addressing the stigma&nbsp;Leprosy continues to carry societal stigma. Dermatologists play a crucial role in dispelling misconceptions, advocating against stigma, and promoting awareness at both individual and community levels.&nbsp;Key points&nbsp;<ul><li>Increasing rates of leprosy have presented in the southeast US, particularly Florida, in recent years&nbsp;</li><li>Transmission is linked to close contact and zoonotic exposure&nbsp;</li><li>Diagnosis can be made via biopsy or inferred from clinical or histopathologic clues&nbsp;</li><li>Leprosy must be reported at the state and federal levels</li><li>Directly observed therapy with rifampin, moxifloxacin or ofloxacin, and minocycline is recommended&nbsp;</li><li>Patients should be screened on an ongoing basis for immunologic reactions&nbsp;</li><li>Dermatologists play a crucial role in dispelling stigmas around leprosy</li></ul>

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