Hand, Jennifer L.

AbstractBackgroundIsotretinoin treatment for acne can reduce adverse psychiatric outcomes in adults, but there has been little investigation of the incidence of psychiatric outcomes in treated adolescents.MethodsThis retrospective cohort study using the Rochester Epidemiology Project identified 606 patients aged 12–18 prescribed isotretinoin over a 10‐year period between January 1, 2008 and December 31, 2017. Medical records were reviewed to identify psychiatric diagnoses before and during isotretinoin therapy, as well as psychiatric symptoms not captured by formal diagnoses and changes to isotretinoin dosing because of psychiatric diagnoses or symptoms.ResultsOne hundred seventy‐seven (29.2%) had a psychiatric diagnosis prior to isotretinoin initiation, but 98 (16.2%) had a new psychiatric diagnosis or psychiatric symptom while taking isotretinoin. Patients with a psychiatric history were no more likely than those without to receive a new psychiatric diagnosis during treatment (4.5% vs. 3.7%; p = .650), but did experience more psychiatric symptoms, primarily low mood and mood swings (23.7% vs. 7.7%; p < .001). Only 25.5% of the 98 with a new psychiatric diagnosis or psychiatric symptom had a subsequent dose change. A dose change was more likely if patients received a new psychiatric diagnosis (41.7% vs. 20.3%; p = .037) or patients did not have a psychosocial explanation for psychiatric symptoms (34.4% vs. 10.8%; p = .009).ConclusionsA substantial proportion of adolescent patients prescribed isotretinoin had a prior psychiatric diagnosis. This predicts more psychiatric symptoms during isotretinoin treatment. Adolescents with a psychiatric history who have worsening symptoms and those with new‐onset psychiatric symptoms would benefit from close monitoring while taking isotretinoin.

AbstractA 2‐year‐old boy presented with an extensive, asymptomatic, photosensitive eruption refractory to topical steroids and tretinoin; examination and biopsies were consistent with generalized linear porokeratosis involving the face, limbs, and trunk. Treatment with topical cholesterol‐lovastatin was initiated, and it successfully improved early erythematous lesions. Whole exome sequencing that targeted mevalonate pathway genes crucial in cholesterol synthesis later revealed a pathogenic, paternally inherited, porokeratosis‐associated MVD, c.70+5 G>A, mutation. Topical cholesterol‐lovastatin is a safe and effective empiric treatment for porokeratosis when used in the early, erythematous phase, and its success is likely mediated through its role in targeting mevalonate pathway mutations.

AbstractBackground/ObjectivesBasal cell nevus syndrome (BCNS) is an autosomal dominant skin cancer predisposition syndrome associated with abnormal mineral metabolism, a risk factor for urinary stone disease (USD). However, no research investigating the association between BCNS and USD or other manifestations of abnormal mineral metabolism has been conducted. The objective of this study is to investigate the association between BCNS and conditions associated with disordered mineral metabolism including USD, hypothyroidism, and osteoporosis and compare them to prevalence in the general population to elucidate potential unknown manifestations of the condition.MethodsThis retrospective study examined medical records of adult and pediatric patients with confirmed BCNS from the Mayo Clinic database from 1 January 1995 to 12 January 2020. Records were surveyed for evidence of USD and other comorbidities potentially related to BCNS. The studied cohort included 100 adult patients and 5 pediatric patients.ResultsA total of 105 patients were included in this analysis, 10 of whom experienced confirmed USD, representing a prevalence of 10%. Six adult patients were identified with a diagnosis of osteoporosis, representing a prevalence of 6%. Thirteen adult patients were identified with a diagnosis of hypothyroidism, representing a prevalence of 13%.ConclusionsThis study identified a prevalence of USD in BCNS patients comparable to estimates of national prevalence, indicating that known abnormalities in mineral metabolism likely do not increase the incidence of USD in BCNS patients. Additional findings included increased prevalence of hypothyroidism and decreased prevalence of osteoporosis in the BCNS cohort compared to national averages.

AbstractBackground/ObjectiveCurrent knowledge about usage of effective, but non‐first‐line topical acne medications in the United States is limited. We aimed to investigate utilization patterns and temporal trends for such acne medications in the US ambulatory care.MethodsPediatric (≤18 years old) and adult (>18 years old) data from the 2012 to 2016 (inclusive) cycles of the US National Ambulatory Medical Care Survey were extracted. Utilization patterns of six non‐first‐line topical acne medications (ie, azelaic acid, salicylic acid, glycolic acid, sulfur, resorcinol, and zinc) were compared and followed over time.ResultsData from 218 410 US office–based sampled visits during 2012‐2016 were included in the analysis. Across all acne visits (n = 1542), salicylic acid (1.58%), azelaic acid (1.22%), and glycolic acid (0.52%) were the most frequently used agents, while zinc and resorcinol were not used. Sulfur (0.52%) and salicylic acid (0.33%) were the only medications used in preadolescents, and none of these medications were used in the neonatal or infantile group. Temporal trends for using at least one of these medications were insignificant among both pediatric and adult age groups (P = .825 and .136, respectively).ConclusionsSalicylic acid and azelaic acid are the most frequently used of the studied second‐line medications to treat acne, although the use of these and the other non‐first‐line topical medications overall is uncommon, especially among younger groups of US pediatric patients.

AbstractBackground/ObjectivesTrisomy 21 has known associated clinical phenotypes, including skin and soft tissue concerns. However, the overall prevalence and types of findings are largely unclear.MethodsA retrospective review of children with trisomy 21 and one or more dermatologic diagnoses, seen from 1/1/1994 to 7/1/2016, was performed to record dermatologic diagnoses. If one or more diagnoses were confirmed, further data were collected, including demographics, medical specialty, referrals to dermatology, treatment, complications, and follow‐up.ResultsOne hundred and seventy‐four patients with a diagnosis of trisomy 21 aged 18 years or younger were confirmed to have one or more dermatologic diagnoses. In a total of 479 dermatologic diagnoses, superficial mycoses (12%), skin and soft tissue infections (10%), dermatitis (8%), and folliculitis (8%) were most common. Diagnoses were most commonly made as an outpatient (91%) and by general pediatrics (45%) or dermatology (25%). A significant difference (P < .05) in the frequency of various diagnoses made by different specialties was observed. A significant difference (P < .05) in the treatments recommended by different specialties was also observed. Referrals to dermatology were infrequent (6%). However, a frequent change in diagnosis (61%) or treatment (68%) for patients referred to dermatology was observed.ConclusionsChildren with trisomy 21 are most commonly diagnosed with superficial mycoses, skin and soft tissue infections, dermatitis, and folliculitis. The majority of diagnoses were made by general pediatricians and although dermatology referral was rarely necessary, consultations often resulted in change of diagnosis and/or treatment, supporting consideration of early and frequent dermatology referral.

AbstractBackgroundRecognizable skin findings of child physical abuse include bruises, abrasions, lacerations, bite marks, burns, and oral injuries. Self‐induced skin picking, or neurotic excoriation, can correspond to emotional stress, underlying psychiatric illness, or substance abuse. Parental neurotic excoriation injury of children has not been reported previously as a form of physical abuse.MethodsWe present a case series of five children abused via parental excoriation. All affected children were three years of age or younger and otherwise healthy. Each child presented with wounds determined to be consistent with chronic picking. Patient age, injury location, and in some cases, witness accounts confirmed the lesions were not self‐inflicted.ResultsIn three cases, caregivers reported methamphetamine use. In these cases, caregivers repeatedly picked or wiped the infants’ skin. In two cases, the caregiver demonstrated personal neurotic excoriation behavior, which was imposed upon her children resulting in similar lesions. One affected child died at 14 days of age from abusive head trauma, while the other four children were placed in foster care by Child Protective Services.ConclusionExcoriation injury places children at risk for significant scarring and other long‐term effects. We report examples demonstrating that repetitive skin injury by caregivers is a diagnostic consideration for abuse in young children.

AbstractBackground/ObjectivesPatients 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.MethodsThis 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.ResultsEighty‐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.ConclusionsThis 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.

AbstractBackground/ObjectivesTo determine the role of sex in port‐wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome‐associated and non‐syndrome‐associated PWS using modern criteria.MethodsA retrospective review of PWS patients aged 18 years and younger from 1995 to 2018 seen in the Department of Dermatology at an academic tertiary referral center. Cases were reviewed for sex, anatomic location, and presence of associated syndrome. 4,527 records were reviewed on the basis of ICD billing codes for congenital vascular malformations, with 516 meeting inclusion criteria.Results516 patients were included in the analysis: 234 (45.4%) men and 282 (54.6%) women. A female preponderance of Sturge‐Weber syndrome (18 of 23, 78%, P = .03) and a trend toward more female‐isolated PWS (149 of 269, 55%, P = .72) were found. No lateral predominance observed for isolated PWS was found: 112(41.6%) limited left‐side lesions and 113(42%) limited right‐side lesions (P = .41). A trend toward Klippel‐Trenaunay syndrome (KTS)‐associated PWS occurring more commonly isolated to the left side (76 (45.5%) vs 59 (35.12%) P = .29) was found. Nine percent of SWS patients had a PWS on the body. Five percent of KTS patients had a facial PWS. The lower limb was the most common location overall of body PWS with 33.8% of isolated PWS and 81.5% of KTS patients having a lower limb lesion.ConclusionsFemale children were more likely to be diagnosed with SWS, and a trend toward more isolated PWS in women was found. No lateral predominance of isolated PWS was found, but KTS‐associated PWS was more common on the left. A considerable proportion of lesions do not appear in anatomic locations traditionally considered typical in the setting of associated syndromes, which underscores the importance of conducting a complete physical examination and adhering to diagnostic criteria for those syndromes.

AbstractBackground/objectivesStudies assessing the utility of spironolactone for treating acne in adolescent females are lacking. Thus, we sought to examine spironolactone's role in treating this patient population.MethodsA retrospective review was performed to determine the efficacy of spironolactone treatment in adolescent females seen at Mayo Clinic in Rochester, Minnesota, from 2007 to 2017.ResultsIn a cohort of 80 pediatric patients with a median age of 19 years (range, 14‐20 years), 64 patients (80%) experienced improvement of acne on treatment with spironolactone (median dose, 100 mg daily) with a favorable side effect profile. Approximately a quarter of patients (22.5%) had a complete response; more than half (58.8%) had a complete response or a partial response greater than 50%. Initial and maximal responses were observed at a median of 3 months and 5 months, respectively. Patients received treatment with spironolactone for a median duration of 7 months (range, 3‐45 months) with limited side effects.ConclusionsSpironolactone demonstrated efficacy in treating acne in adolescent females and is a safe long‐term alternative to systemic antibiotics in these patients.