Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.

Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%-25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal screening (NIPS) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPS has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPS in 152 infants with SCAs and potential factors influencing this decision. Eighty-seven (57%) elected to defer diagnostic testing after a positive NIPS until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.

Damage to the Temporal Branch of the Facial Nerve From Mohs Micrographic Surgery.

BACKGROUND: The temporal branch of the facial nerve is at risk of damage during Mohs micrographic surgery (MMS). This complication leads to motor deficit in the ipsilateral upper face with resultant functional and cosmetic impairment. OBJECTIVE: To identify patient, tumor, and surgical risk factors associated with temporal nerve damage. MATERIALS AND METHODS: A single-institution, retrospective review of MMS cases involving anatomic sites within the temporal nerve danger zone was performed. Risk factors were compared between cases with and without nerve damage. RESULTS: Of 616 cases within the danger zone, 28 (4.5%) had postoperative nerve dysfunction. Variables significantly associated with dysfunction included patient immunosuppression, tumor size, aggressive tumor histology, recurrent tumors, high degree of subclinical spread, and greater average number of Mohs stages. Preoperative tumor size and postoperative defect size of ≥3 cm resulted in a ×37 and ×40 increased odds of nerve damage, respectively. Sex, age, and basal versus squamous cell carcinoma were not significantly associated with temporal nerve damage. No patients with a postoperative defect size measuring <2 cm had nerve damage. CONCLUSION: The overall risk of damage to the temporal nerve during MMS is low, but there are certain risk factors that warrant increased counseling about this potential complication.

Development of a core outcome set for basal cell carcinoma.

BACKGROUND: There is variation in the outcomes reported in clinical studies of basal cell carcinoma. This can prevent effective meta-analyses from answering important clinical questions. OBJECTIVE: To identify a recommended minimum set of core outcomes for basal cell carcinoma clinical trials. METHODS: Patient and professional Delphi process to cull a long list, culminating in a consensus meeting. To be provisionally accepted, outcomes needed to be deemed important (score, 7-9, with 9 being the maximum) by 70% of each stakeholder group. RESULTS: Two hundred thirty-five candidate outcomes identified via a systematic literature review and survey of key stakeholders were reduced to 74 that were rated by 100 health care professionals and patients in 2 Delphi rounds. Twenty-seven outcomes were provisionally accepted. The final core set of 5 agreed-upon outcomes after the consensus meeting included complete response; persistent or serious adverse events; recurrence-free survival; quality of life; and patient satisfaction, including cosmetic outcome. LIMITATIONS: English-speaking patients and professionals rated outcomes extracted from English language studies. CONCLUSION: A core outcome set for basal cell carcinoma has been developed. The use of relevant measures may improve the utility of clinical research and the quality of therapeutic guidance available to clinicians.

Characterization of the 2019 Micrographic Surgery and Dermatologic Oncology Standardized Letter of Recommendation.

BACKGROUND: Traditional letters of recommendation used for postgraduate medical training applications have multiple limitations, including a lack of clarity, inflated and overly flattering assessments, and low reliability between interpreting faculty. A micrographic surgery and dermatologic oncology (MSDO) standardized letter of recommendation (SLOR) was created to improve the efficiency, validity, and stratification of applicants to dermatology fellowship training programs. OBJECTIVE: To analyze the MSDO SLOR for trends in grading based on letter-writer and applicant characteristics and to evaluate its ability to demonstrate differences between applicants. METHODS: Standardized letter of recommendations received by 4 fellowship programs from the 2019 San Francisco Match application cycle were reviewed retrospectively. RESULTS: Two hundred forty-nine SLORs were analyzed from 140 applicants. Grade inflation and limited variability in scores were evident. Higher scores correlated with the length of the relationships between letter-writers and applicants and with female letter-writer gender. There was no applicant gender or ethnicity bias detected. CONCLUSION: Despite score inflation, the MSDO SLOR allows for differentiation between fellowship applicants. Future studies are needed to further evaluate the reliability of the SLOR and find ways to improve its content.

Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.

Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a broadening of known associated medical comorbidities as well as advances in psychological research. This review summarizes what is known about early neurodevelopmental, behavioral, and medical manifestations in young children with SCT. We focus on recent research and unanswered questions related to the risk for neurodevelopmental disorders that commonly present in the first years of life and discuss the medical and endocrine manifestations of SCT at this young age. The increasing rate of prenatal SCT diagnoses provides the opportunity to address gaps in the existing literature in a new birth cohort, leading to development of the eXtraordinarY Babies Study. This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.

Analysis of Speaking Opportunities by Gender at National Dermatologic Surgery Conferences.

BACKGROUND: Although gender disparities for those entering medicine have equalized, the number of women advancing in academia has remained low. Studies have demonstrated that women's representation at academic medical conferences has also remained low across multiple fields. Given that conference presentations and national reputation serve as metrics for academic promotion, women's representation at dermatology conferences may provide insight into women's academic productivity. OBJECTIVE: To examine the gender composition of presenters and speaking time at the 2 main national dermatologic surgery conferences. METHODS: Speaker's gender, presentation time, and topics were collected for 2009 to 2017 for the American College of Mohs Surgery (ACMS) and the American Society for Dermatologic Surgery (ASDS) Annual Meetings. RESULTS: Women had significantly fewer speaking opportunities and speaking minutes at both conferences. This disparity was most pronounced in reconstruction topics and least pronounced in cosmetics topics. The majority of top speakers, repeat speakers, and keynote speakers were men for both conferences. Oral abstracts showed no gender disparity at either conference. CONCLUSION: Women spoke less than men at both the ASDS and ACMS annual meetings over multiple years studied. Recently, this disparity in speaking opportunities has decreased. Further studies are needed to evaluate the speaking opportunities for women at other types of dermatology conferences.

Initial skin cancer screening for solid organ transplant recipients in the United States: Delphi method development of expert consensus guidelines.

Skin cancer is the most common malignancy affecting solid organ transplant recipients (SOTR), and SOTR experience increased skin cancer-associated morbidity and mortality. There are no formal multidisciplinary guidelines for skin cancer screening after transplant, and current practices are widely variable. We conducted three rounds of Delphi method surveys with a panel of 84 U.S. dermatologists and transplant physicians to establish skin cancer screening recommendations for SOTR. The transplant team should risk stratify SOTR for screening, and dermatologists should perform skin cancer screening by full-body skin examination. SOTR with a history of skin cancer should continue regular follow-up with dermatology for skin cancer surveillance. High-risk transplant patients include thoracic organ recipients, SOTR age 50 and above, and male SOTR. High-risk Caucasian patients should be screened within 2 years after transplant, all Caucasian, Asian, Hispanic, and high-risk African American patients should be screened within 5 years after transplant. No consensus was reached regarding screening for low-risk African American SOTR. We propose a standardized approach to skin cancer screening in SOTR based on multidisciplinary expert consensus. These guidelines prioritize and emphasize the need for screening for SOTR at greatest risk for skin cancer.

Surgical Dressings and Novel Skin Substitutes.

Dressings are integrally tied to wound outcomes in dermatologic surgery. Due to the wide range of wound types and dressing options available, dressing selection can be a formidable task. An understanding of dressing materials and their unique properties allows for a tailored approach to postoperative wound care. Conventional layered dressings often are suitable for uncomplicated dermatologic surgery wounds. Occlusive dressings and tissue-engineered skin substitutes may be warranted in more complex cases. This review is intended to equip the reader with the knowledge and confidence to successfully manage surgical wounds in dermatology.