Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations of the skin. This disorder has been described as two distinct entities: CM-AVM1 and CM-AVM2. The diagnosis of these disorders has been associated with pathogenic variants in the RASA1 gene for RASA1-CM-AVM, formerly known as CM-AVM1, and, more recently, the EPHB4 genes for EPHB4-CM-AVM, formerly known as CM-AVM2.

Responsiveness to Change of the Morphea Activity Measure in Pediatric Patients.

Importance: Detecting activity of morphea can be complex but is crucial for adequate treatment and outcome assessment. The Morphea Activity Measure (MAM) was recently validated, but its responsiveness to change in disease activity has not been studied.

Objective: To evaluate the internal and external responsiveness of MAM to changes in disease activity in pediatric patients.

Plexiform neurofibroma masquerading as a giant congenital melanocytic nevus.

A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities.

Presenting characteristics and progression of pediatric-onset morphea: Interim analysis of a prospective registry.

Morphea is a rare fibrosing disorder with a highly variable disease course, which can complicate management. Here, we present a prospective cohort study describing the current treatments used in the management of pediatric-onset morphea and assessing responses to systemic and topical therapies. Most patients demonstrated inactive disease by 1 year, regardless of treatment, though recurrences were common in our cohort overall (39%).

Methotrexate for inflammatory skin disease in pediatric patients: Consensus treatment guidelines.

Methotrexate (MTX) is a readily accessible drug, first used in 1948 and employed for a wide variety of indications since then. However, despite widespread off-label use, FDA labeling does not include approved indications for the use of MTX for many inflammatory skin diseases in pediatric patients, including morphea, psoriasis, atopic dermatitis, and alopecia areata, among others. Without published treatment guidelines, some clinicians may be hesitant to use MTX off-label, or uncomfortable prescribing MTX in this population.

Development and Validation of the Morphea Activity Measure in Patients With Pediatric Morphea.

Importance: Morphea is an insidious inflammatory disorder of the skin and deeper tissues. Determining disease activity is challenging yet important to medical decision-making and patient outcomes.

Objective: To develop and validate a scoring tool, the Morphea Activity Measure (MAM), to evaluate morphea disease activity of any type or severity that is easy to use in clinical and research settings.

Undiagnosed and Rare Diseases in Critical Care: Severe Mucocutaneous Medication Reactions.

There have been major advances in the understanding of severe cutaneous adverse reactions (SCARs). Early recognition and withdrawal of culprit medications can decrease morbidity and mortality significantly. SCARs encompass a variety of entities that present with extensive mucocutaneous involvement and systemic symptoms, often requiring management in an intensive care setting.

Vulvar aphthous ulcer after COVID-19 vaccination.

Vulvar aphthous ulcer, also known as acute genital ulceration or Lipschutz ulcers, is an uncommon, non-sexually acquired condition characterized by sudden onset ulcerations of the vulva in young girls and women. It is thought to represent an immunologic reaction to an infection or other source of inflammation and is commonly preceded by prodromal symptoms including fever, chills, fatigue, and malaise. During the COVID-19 pandemic, vulvar aphthous ulcer associated with COVID-19 infection has been reported.

Vaccines: Considerations for pediatric dermatology patients on immunosuppressive agents.

Pediatric dermatologists should be aware of immunization schedules and special recommendations for patients on immunosuppressive agents due to the increased risk of vaccine-preventable infections. Prior to initiating immunosuppressive therapy, pediatric dermatologists should review a vaccine history and administer any necessary age-appropriate or catch-up vaccines. Live vaccines are typically contraindicated while on immunosuppressive therapy, while inactivated vaccines are generally safe to administer.

Body site distribution of pediatric-onset morphea and association with extracutaneous manifestations.

Background: The distribution of pediatric-onset morphea and site-based likelihood for extracutaneous complications has not been well characterized.

Objective: To characterize the lesional distribution of pediatric-onset morphea and to determine the sites with the highest association of extracutaneous manifestations.

Methods: A retrospective cross-sectional study was performed.

Hidradenitis Suppurativa in the Pediatric Population: An International, Multicenter, Retrospective, Cross-sectional Study of 481 Pediatric Patients.

Importance: Hidradenitis suppurativa (HS) in pediatric patients has been understudied. Increased awareness and recognition of HS prevalence in children demand efforts to better understand this condition.

Objective: To describe the demographics, clinical features, treatment, associated comorbidities, and outcomes in a large cohort of pediatric patients with HS.

Post-transplant primary cutaneous peripheral T-cell lymphoma not otherwise specified in a pediatric patient.

Solid organ and hematopoietic stem cell transplantation may be complicated by the development of post-transplant lymphoproliferative disorders (PTLDs). The World Health Organization categorizes PTLDs into four entities including non-destructive, monomorphic, polymorphic, and classical Hodgkin lymphoma types. The most common PTLDs are B-cell lymphomas, with T-cell lymphomas accounting for only a few cases.

Histopathologic Spectrum of Morphea.

Morphea is an autoimmune skin disease with protean clinical manifestations. Histologic features are similarly variable, and skin biopsies may be nondiagnostic. A single-institution retrospective cohort study was conducted.

Anti-Ku antibody-positive systemic sclerosis-polymyositis overlap syndrome in an adolescent.

Systemic sclerosis-polymyositis overlap syndrome is rare in children. Anti-PM/Scl is the most common autoantibody associated with this syndrome. We present a case of systemic sclerosis-polymyositis overlap syndrome in a child with isolated anti-Ku antibodies, an uncommon antibody associated with this rare syndrome.