Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.

BACKGROUND: Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper- and hypo-pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with PM. The dermatology literature suggests lower associated rates (15%-30%) of NA. Variations in terminology, inclusion criteria, and small population sizes makes interpreting existing PM literature complicated. We aimed to assess rates of NA in children presenting to dermatology with PM. METHODS: We included patients <19 years, diagnosed with PM, nevus depigmentosus and/or segmental café au lait macules (CALM) seen in our dermatology department between 1 January 2006 and 31 December 2020. Patients with neurofibromatosis, McCune-Albright syndrome, and non-segmental CALM were excluded. Data collected included pigmentation, pattern, site(s) affected, presence of seizures, developmental delay, and microcephaly. RESULTS: One hundred fifty patients were included (49.3% female), with a mean age at diagnosis of 4.27 years. Patterns of mosaicism were ascertained for 149 patients and included blaschkolinear (60/149, 40.3%), blocklike (79/149, 53.0%), or a combination of both patterns (10/149, 6.7%). Patients with a combination of patterns were more likely to have NA (p < .01). Overall, 22/149 (14.8%) had NA. Nine out of twenty-two patients with NA had hypopigmented blaschkolinear lesions (40.9%). Patients with ≥4 body sites affected were more likely to have NA (p < .01). DISCUSSION: Overall, our population had low rates of NA in PM patients. A combination of blaschkolinear and blocklike patterns, or ≥4 body sites involved were associated with higher rates of NA.

Increased epigenetic age acceleration in the hidradenitis suppurativa skin.

Epigenetic (or DNA methylation) age is calculated based on methylation of certain cytosine-guanine (CpG) repeats, and it can accurately estimate one's chronologic age. Importantly, epigenetic age acceleration (EAA) is highly predictive of age-associated morbidity and all-cause mortality. Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with significant systemic disease burden. Here, we performed a pilot study to calculate EAA from formalin-fixed paraffin-embedded skin samples using Illumina Infinium MethylationEpic BeadChip arrays. Our results demonstrated no significant difference in intrinsic EAA among HS compared to controls (- 1.00 years, p-value = 0.52), significant increases in both extrinsic EAA (13.72 years, p-value < 0.001) and PhenoAge acceleration (7.72 years, p-value = 0.003), and a significant decrease in GrimAge acceleration (- 5.14 years, p-value < 0.001). Our findings suggest that the acceleration of epigenetic age in the HS skin may be associated with extrinsic immune-related changes and can potentially serve as a biomarker of the present and/or future disease burden in HS patients.

Urgent referrals from primary care to dermatology for lesions suspicious for skin cancer: patterns, outcomes, and need for systems improvement.

Ideally, urgent dermatology referrals for evaluation of a lesion concerning for skin cancer should be triaged and processed with appropriate urgency by primary care and dermatology, respectively. We performed a retrospective single-institution study by conducting chart reviews of all dermatology referrals designated by primary care as urgent for evaluation of a lesion concerning for skin cancer. We identified 320 referrals placed between January 1 and December 31, 2018. Dermatology encounters for these patients occurred on or before 30 days for 50.6% of referrals and on or after 31 days for 38.4% of referrals, with 10.9% never completed. The percentage of all races excluding whites, non-Hispanic in the delayed appointment group (≥ 31 days) was 15.1% higher (95% CI 5.3-24.9) than in the timely appointment group (≤ 30 days). Similarly, the percentage of non-English languages in the delayed group was 7.1% higher (95% CI 0.5-13.7) than in the timely group. Overall, 15.8% of these referrals yielded diagnoses of malignancy, while 76.8% and 7.4% resulted in benign and pre-malignant diagnoses, respectively. The primary care team documented referral status (i.e., completed, incomplete, or pending) during their subsequent visits with the patients in only 37.5% of these referrals. Our findings demonstrate the need to improve the reliability of urgent referrals to ensure they occur in a timely manner with confirmation of "referral loop" closure at the referring clinician's end.

Overview of use, efficacy, and safety of dupilumab in complex patients: a retrospective, case-series study from a large, urban academic center.

Dupilumab has emerged as an effective treatment option for those suffering from moderate-to-severe atopic dermatitis (AD). Since its approval in 2017 by the United States Food and Drug Administration, dupilumab demonstrated efficacy in a wide range of "off-label" dermatologic conditions. With its increasing use, dermatologists must navigate prescribing dupilumab in complex patient populations. To that end, we performed a single-institution, retrospective, case-series study to assess efficacy, tolerability, and safety of dupilumab in elderly, patients on concomitant immunosuppressive/immunomodulating therapies, and those with pre-existing co-morbidities (e.g., malignancies, chronic renal and/or liver diseases, organ transplantation, hematologic malignancies, and infection). We conducted chart reviews of 248 patients who were prescribed dupilumab between January 1, 2017 and August 31, 2021, and identified 64 patients who met the criteria of being in the complex patient group as described above. Our results showed that 87.5% (56/64) of complex patients demonstrated improvement and/or disease clearance on dupilumab. 20.3% (13/64) of them experienced one or more side effects reported as conjunctivitis, seborrheic dermatitis, psoriasiform eruption, xerosis, facial burning sensation, anaphylactic reaction/angioedema, and worsening of AD. 9.4% (6/64) of them discontinued dupilumab due to the side effects. These findings demonstrated that dupilumab can be safely considered in certain complex patient populations such as elderly and those with significant pre-existing co-morbidities and can be safely combined with immunosuppressive medications and/or other biologic therapies. In the future, more studies with long-term follow-up are needed to validate the efficacy and safety of dupilumab in these challenging patients with complex medical histories.

Slugging: TikTokTM as a source of a viral "harmless" beauty trend.

"Slugging" is a viral beauty trend on TikTokTM that entails slathering a petrolatum-based ointment on the skin as a last step in your evening skincare routine. Due to its occlusive nature, slugging has a potential risk for harm. Here, we screened top 50 TikTok videos on slugging and analyzed upload source, content, and quality of each video. Overall, 18 (36.7%) videos were deemed educational, discussing risks and/or benefits. By upload source, health care providers (HCPs) created more educational videos (87.5%, P = .009), while online influencers created more patient experience videos (43.3%). This difference was evident when comparing the upload source. DISCERN scores (a validated measure of video's quality as a source of information) differed significantly among HCP, influencers, and others (3, 2, 2, respectively, P = .01). Together, our study demonstrates that compared to influencers and others, HCPs created videos of more high-quality, educational content on slugging.

Cutaneous Manifestations of Inflammatory Bowel Disease: A Basic Overview.

Inflammatory bowel disease (IBD) is a chronic inflammatory condition of the gastrointestinal (GI) tract that is subdivided into Crohn's disease (CD) and ulcerative colitis (UC). CD is characterized by involvement of the entire GI tract, while UC mainly affects the distal GI tract. Moreover, both CD and UC can present with extraintestinal manifestations (EIMs) of the disease affecting multiple organ systems including the hepatobiliary tract, kidney, bones, eyes, joints, and skin. These complications can cause significant morbidity and negatively impact the quality of life for IBD patients. Although the pathogenesis of EIMs is not clearly elucidated, it is postulated that the diseased GI mucosa similarly stimulates excess immune responses at the extraintestinal sites. Cutaneous EIMs occur in up to 15% of patients with IBD, often predating their IBD diagnosis. They are categorized into (1) specific, (2) reactive, (3) associated, and (4) treatment-induced. Here, we review the epidemiological, clinical, diagnostic, and histologic features of the most commonly described cutaneous EIMs of IBD along with their respective treatment options.