Phenotypic Spectrum of GNA11 R183C Mosaicism.

Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.

Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.

Neonatal Sweet syndrome with associated rectovestibular fistula and review of the literature.

An otherwise healthy 4-week-old term female of Japanese heritage presented with a 1-week history of asymptomatic progressive, generalized skin lesions. The lesion morphology, distribution, and dermatopathology result was consistent with Sweet syndrome. The patient was found to have a congenital type H rectovestibular fistula.

Complex cutaneous leishmaniasis in a pediatric patient.

Cutaneous leishmaniasis (CL), a parasitic infection caused by Leishmania protozoa and transmitted by sandfly bites, can be classified into Old World and New World subtypes. We report a case of a 2-year-old female who developed complex CL after travel to Panama. Ultimately, successful treatment required two rounds of liposomal amphotericin B.

Multimorbidity in Psoriasis as a Risk Factor for Psoriatic Arthritis: A Population-Based Study.

Objectives: To examine multimorbidity in psoriasis and its association with the development of PsA.

Methods: A retrospective cohort study was performed using the Rochester Epidemiology Project. Population-based incidence (2000-2009) and prevalence (Jan 1, 2010) cohorts of psoriasis were identified by manual chart review.

Idiopathic eruptive macular pigmentation in a pediatric patient and a review of the literature.

Idiopathic eruptive macular pigmentation (IEMP) is a rare, benign, self-resolving melanosis consisting of hyperpigmented macules typically on the face, trunk, and extremities that can occur in children and adolescents and often presents a diagnostic conundrum. We report a case involving an 8-year-old female whose previous clinical presentation was concerning for an atypical presentation of cutaneous mastocytosis or neurofibromatosis. The clinical and histopathologic evaluation was consistent with the diagnosis of IEMP, and no active intervention was pursued.

Prevalence and spectrum of infectious and inflammatory dermatologic conditions occurring in pediatric heart transplant patients on a predominantly mTOR-based immune suppressive regimen: A retrospective chart review.

Introduction: Pediatric heart transplant patients are routinely followed in dermatology clinics due to elevated risk of cutaneous malignancy. However, transplant patients may experience other, non-cancer-related dermatologic conditions including skin infections, inflammatory diseases, and drug eruptions that can cause significant medical and psychosocial comorbidity.

Methods: A retrospective chart review of all pediatric heart transplant patients at Mayo Clinic Children's Center in Rochester, MN, was performed to determine the prevalence and spectrum of non-cancer dermatologic conditions.

Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity.

Background: Bier anemic spots, cyanosis with urticaria-like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized.

Pathogenesis-directed treatment of linear porokeratosis with topical cholesterol-lovastatin.

A 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.

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

Background: The PI3K/AKT pathway, extensively studied in cancer, is vital for regulating cell metabolism, differentiation, and proliferation. Pathogenic variants in the PIK3R1 gene, which encodes three regulatory units of class IA PI3Ks, have been found in affected tissue of individuals with vascular lesions. These variants predominantly occur in the iSH2 domain, disrupting inhibitory contacts with the catalytic unit and leading to PI3K activation.

A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial.

Background: Facial angiofibromas (FAs) are a major feature of tuberous sclerosis complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream formulation that protects rapamycin from oxidation has been developed in 0.

The impact of childhood psoriasis on the quality of life of parents and caregivers.

We used the Psoriasis Caregiver Impact Scale to explore the quality of life (QoL) of parents/caregivers of children with psoriasis. We found that the QoL of parents of children with psoriasis is negatively affected in numerous domains including family and social life, emotional health, work, activities, and finances.

Infantile perianal pyramidal protrusion: A retrospective review of 27 patients.

Background: Infantile perianal pyramidal protrusion (IPPP) is a rare benign skin condition that is typically seen in infant girls. This condition is often mistaken for other skin lesions such as acrochordons, condyloma acuminatum, and sequelae of sexual abuse. Many clinicians are unfamiliar with IPPP which can lead to aggressive workup and treatment.

Socioeconomic status, race, and preadolescent acne: A population-based retrospective cohort analysis in a mixed rural-urban community of the United States (Olmsted County, Minnesota).

Background/objective: There is limited information about the potential relationship of socioeconomic status (SES) with acne in preadolescents. Our objective was to assess the possible relationship between SES and preadolescent acne.

Methods: A population-based retrospective cohort study was conducted to identify Olmsted County, Minnesota, residents with an initial acne diagnosis between 7 and ≤12 years old during 2010 to 2018 using the Rochester Epidemiology Project.