Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.

Autosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype. We report a case of a novel pathogenic CYP4F22 genetic mutation presenting with collodion membrane and ocular manifestations. Ocular manifestations have recently been reported in a patient with ARCI with known CYP4F22 mutation, which further supports a possible correlation between the CYP4F22 mutation and this distinct phenotype.

Sexual orientation and gender identity (SOGI) data in dermatologic studies and opportunities for inclusion.

Dermatologists serve a vast array of patients with unique backgrounds. The National Institutes of Health (NIH) designated members of sexual and gender minorities as underrepresented in scholarly literature. Our study examines the past 10 years of studies published in highly-cited dermatologic journals, surveying each study for common data collection of sexual orientation and gender identity (SOGI) in dermatological studies. We found representation of sexual and gender minorities to be increasing in dermatological studies but recommend that SOGI data be collected regularly just as any other common variable in dermatological patient studies.

Dermatologic considerations for transgender and gender diverse youth.

Sexual and gender minority individuals, including transgender and gender diverse people, are an underserved and vulnerable population in the field of dermatology. While the unique dermatologic needs for adult patients in this group are increasingly documented, the knowledge surrounding pediatric and adolescent transgender/gender diverse patients is lacking. We aim to summarize the unique dermatologic needs of transgender/gender diverse patients, with particular attention paid to the data available in younger groups. This review highlights the unique role pediatric dermatologists can play in the care of transgender and gender diverse youth including but not limited to treating acne and hair pattern changes as well as being knowledgeable about surgical and other cosmetic options for gender affirmation. It also highlights areas for potential future research including dermatologic effects of hormone therapy in children as well as treatments for those side effects.

Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice.

BACKGROUND/OBJECTIVES: Patients with rare diseases are challenged when it comes to finding physicians with expertise in their condition. The Foundation for Ichthyosis and Related Skin Types (FIRST) Tele-Ichthyosis program has provided telemedicine for patients and their families with keratinizing disorders since 2009. This study aims to characterize a decade of experience with the program. METHODS: This retrospective cohort study analyzed cases for demographics of patients and the clinicians who submitted their cases, nature of questions asked, number of expert responses, and characteristics of responses. Surveys were sent electronically to all users of the FIRST Tele-Ichthyosis service to assess experiences with the service and solicit constructive recommendations. Descriptive statistics were performed on the case review and responder surveys. RESULTS: Eighty-eight geographically diverse cases were reviewed showing increased use over time by various specialists for patients of all ages. Sixty-six percent of cases were definitively ichthyosis, and most submitters queried on diagnosis (47%) or treatment (72%). Most submitters described the service as easy to use (66.6%) and advice as timely (61.1%), clear (66.6%), and beneficial (61.1%). All submitters made suggestions for improvement (100%). Experts predominately worked with pediatric populations (70%) and reported self-motivation to volunteer and improve patients' lives (100%). Experts found technological barriers minor and provided feedback to enhance the service. CONCLUSIONS: This report highlights how a rare-disease patient advocacy group successfully supports physician collaboration and patient outcomes through secure and efficient telemedicine. Lessons learned are highly relevant in the current healthcare environment.

The preadolescent acne microbiome: A prospective, randomized, pilot study investigating characterization and effects of acne therapy.

BACKGROUND/OBJECTIVES: Acne, a common pediatric disease, tends to be more comedonal in preadolescents, whereas older individuals are more likely to have inflammatory lesions in addition to comedones. Thus the microbiome of preadolescents may be different. In this pilot study we aimed to characterize the preadolescent acne microbiome, compare the microbiome in preadolescents with and without acne, and investigate changes in the microbiome after topical treatment with benzoyl peroxide or a retinoid in a small cohort of preadolescents. METHODS: Participants were 7-10 years of age with (intervention group) or without (control group) acne and were recruited during routine outpatient dermatology visits. Baseline questionnaires, physical examination, and pore strip application were performed for all participants. Intervention group participants were randomized to receive topical therapy with benzoyl peroxide 5% gel or cream or tretinoin 0.025% cream. Participants with acne were followed up 8-10 weeks later and pore strip application was repeated. RESULTS: Preadolescents with acne were colonized with a greater diversity of cutaneous bacteria than controls and the most commonly identified bacterium was Streptococcus. The number of bacterial species and phylogenetic diversity decreased after treatment with benzoyl peroxide and tretinoin. CONCLUSION: The predominant bacteria in microbiome studies of adult acne is Propionibacterium, whereas in this pediatric population we saw a lot of Streptococcus bacteria. After treatment, the microbiomes of intervention group participants more closely resembled those of control group participants.

Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases.

BACKGROUND/OBJECTIVES: Loose anagen syndrome (LAS) is a disorder of abnormal anchorage of the hair to the scalp. Its symptoms include an inability to grow hair long and hair that is easily pulled out. METHODS: We conducted a retrospective chart review of patients with LAS over the last 10 years at the Children's Hospital of Philadelphia and found 37 cases. RESULTS: LAS was more common in females and was found in all hair colors and skin types. CONCLUSION: Diagnosis of LAS should be made based on history, microscopic findings, and hair bulb and shaft features.

Evaluating Dermatology Residents Combined Oral Contraceptive Pill Prescribing Practices, Knowledge, and Comfort Level in the Management of Acne Vulgaris: A Cross-sectional Survey Study.

Objective: Combined oral contraceptive pills (COCs) are safe and effective therapies for females with acne vulgaris. Data is lacking regarding dermatology residents' COCs use. We aimed to evaluate dermatology residents' knowledge, comfort level, and prescribing practices of COCs in the management of acne vulgaris. Methods: A cross-sectional survey study was emailed to current dermatology residents in approved training programs and descriptive statistics were performed. Results: Most residents reported that COCs are an effective treatment for acne (160/170, 94.1%) but, less felt adequately trained on efficacy (105/170, 61.8%) and safety (72/170, 42.4%). 30 percent (51/170) of residents' attending physicians regularly prescribed COCs for acne. Half were comfortable counseling patients on adverse effects of COCs (86/170, 50.6%) while fewer were comfortable counseling on how to properly take COCs (66/170, 38.8%). 60 percent (102/170) felt comfortable prescribing COCs to healthy adolescents while 66.5 percent (113/170) were comfortable prescribing to adults. Limitations: Limitations include a small sample size, response bias, and inability to calculate an accurate response rate. Conclusion: This data suggests most residents recognize COCs are an effective treatment for acne vulgaris, but less feel adequately trained. Several knowledge gaps and potential educational interventions regarding COCs, including safety, efficacy, adverse effects, and contraindications, are highlighted.

Cutaneous Manifestations of Nutritional Deficiencies in the Context of Food Deserts of United States.

Food deserts exist due to a multitude of factors ranging from socioeconomic status, racial disparities, geography, cost, and healthful food access. Given the vast biological function of vitamins and minerals, the clinical presentation for nutritional deficiencies ranges from benign to life-threatening. Often, the first indicators of underlying nutritional deficiencies are cutaneous manifestations. The first patient case is a 36-year-old female at 25 weeks gestation with a pruritic and painful rash that began in the genital region and spread centrifugally to her legs. The second patient case is a 42-year-old male with a pruritic rash that began at his abdomen and progressed to his thighs. The third patient case is a 48-year-old female with scattered lower extremity ecchymoses in different healing stages and scattered perifollicular erythema with corkscrew hairs. All three patients were found to have nutritional deficiencies and lived in identified food deserts. Deficiencies of zinc, vitamin A, thiamine, pyridoxine, and vitamin C and their subsequent cutaneous manifestations have scarce documentation within food deserts. These cases provide further insight into nutritional deficiencies and offer an opportunity for providers to identify patients at risk. To promote wellness, patients suffering from food insecurity must be identified efficiently and connected with essential resources.

Rapidly developing vesicular eruption.

The patient's previously diagnosed dermatologic condition, paired with her recent exposure history, led to the diagnosis in this case.

A Review of the Use of Biotin for Hair Loss.

BACKGROUND: Biotin has gained commercial popularity for its claimed benefits on healthy hair and nail growth. Despite its reputation, there is limited research to support the utility of biotin in healthy individuals. OBJECTIVE: To systematically review the literature on biotin efficacy in hair and nail growth. METHODS: We conducted a PubMed search of all case reports and randomized clinical trials (RCTs) using the following terms: (biotin and hair); (biotin and supplementation and hair); (biotin supplementation); (biotin and alopecia); (biotin and nails); (biotin and dermatology), and (biotin recommendations). RESULTS: We found 18 reported cases of biotin use for hair and nail changes. In all cases, patients receiving biotin supplementation had an underlying pathology for poor hair or nail growth. All cases showed evidence of clinical improvement after receiving biotin. CONCLUSIONS: Though its use as a hair and nail growth supplement is prevalent, research demonstrating the efficacy of biotin is limited. In cases of acquired and inherited causes of biotin deficiency as well as pathologies, such as brittle nail syndrome or uncombable hair, biotin supplementation may be of benefit. However, we propose these cases are uncommon and that there is lack of sufficient evidence for supplementation in healthy individuals.