34722 Nail-patella syndrome: An early dermatologic diagnosis

Presentation: A 3-month-old female presented with congenital onychodystrophy of both upper extremities and unilateral postaxial polydactyly of her left lower extremity. Physical examination was remarkable for dorsal pterygium of both first fingers, triangular lunulae of the 2nd through 5th fingernails, and Type I postaxial polydactyly of 5th digit without evidence of synonychia. Nail-patella syndrome (NPS) was suspected. Course and therapy: At presentation, radiographs did not show evidence of hypoplastic patellae, elbow abnormalities, or iliac horns. Repeat imaging at 7 months of age suggested the presence of bilateral posterior iliac horns. Based on clinical suspicion, molecular genetic testing was sent. A heterozygous pathogenic variant in LMX1B (c.736C\u3eT (p.Arg246*) was found, confirming a diagnosis of NPS. Discussion: NPS is a clinically variable disorder associated with congenital onychodystrophy, skeletal abnormalities including patellar aplasia or hypoplasia, elbow abnormalities, and pathognomonic iliac horns. Early identifications of NPS is important since almost half of affected individuals develop renal abnormalities including proteinuria, hematuria, nephrotic syndrome, that may progress to end-stage renal disease. Patient may also develop primary open-angle glaucoma and ocular hypertension at an early age. The nail changes, including the presence of the triangular lunulae, are among the earliest and most characteristic findings. This case highlights the role of dermatologists in recognizing these early clinical features to facilitate early multidisciplinary care

Feasibility of Emergency Department–initiated, Mobile Health Blood Pressure Intervention: An Exploratory, Randomized Clinical Trial

ObjectivesWe aimed to assess the feasibility of a text messaging intervention by determining the proportion of emergency department (ED) patients who responded to prompted home blood pressure (BP) self‐monitoring and had persistent hypertension. We also explored the effect of the intervention on systolic blood pressure (sBP) over time.MethodsWe conducted a randomized, controlled trial of ED patients with expected discharge to home with elevated BP. Participants were identified by automated alerts from the electronic health record. Those who consented received a BP cuff to take home and enrolled in the 3‐week screening phase. Text responders with persistent hypertension were randomized to control or weekly prompted BP self‐monitoring and healthy behavior text messages.ResultsAmong the 104 patients enrolled in the ED, 73 reported at least one home BP over the 3‐week run‐in (screening) period. A total of 55 of 73 reported a home BP of ≥140/90 and were randomized to SMS intervention (n = 28) or control (n = 27). The intervention group had significant sBP reduction over time with a mean drop of 9.1 mm Hg (95% confidence interval = 1.1 to 17.6).ConclusionsThe identification of ED patients with persistent hypertension using home BP self‐monitoring and text messaging was feasible. The intervention was associated with a decrease in sBP likely to be clinically meaningful. Future studies are needed to further refine this approach and determine its efficacy.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149295/1/acem13691.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149295/2/acem13691_am.pd

Sleep-related rhythmic movement disorder: A case report of head banging alopecia

We present a case of alopecia associated with sleep-related rhythmic movement disorder (RMD) in an otherwise healthy 2-year-old boy. The alopecic patch he presented with on his scalp coincided with the location of repeated head banging in a video taken by the patient\u27s mother. Alopecia secondary to RMD is an under recognized entity and should be included in the differential diagnosis of pediatric alopecia

Melanoma arising in a patient with ataxia-telangiectasia: A call for full skin examinations in this patient population

Ataxia-telangiectasia (A-T) is an autosomal recessive, multisystem disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias that present in early childhood. Increased incidence of malignancy is also associated with A-T. Hematopoietic malignancies occur most commonly, with a majority being lymphoid cancers; however, there is a risk for other malignancies, such as breast, gastric, and other solid tumors. Herein, we report the case of a 28-year-old woman with A-T with melanoma

Women’s representation at an academic dermatology conference: trending upwards, but not equal yet

Although women make up a significant portion of the workforce in dermatology, they remain underrepresented in academia. This study investigates the number of male and female symposium speakers at the American Academy of Dermatology annual meetings over a three-year period and compares research productivity and academic rank between the men and women invited to speak. The results demonstrate a steady increase in the representation of female symposium speakers at the conference from 2016 to 2018, although a higher proportion of invited male speakers hold professorships and leadership positions. This upward trend in women's representation may translate to more opportunities for female engagement in academic dermatology. Although women make up over 60% of residents in dermatology, they are not proportionally represented in this conference sample. This imbalance in representation demonstrates that further interventions to increase the representation of female professors and chairs may be necessary