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Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously, the trigeminal nerve distribution of a port-wine birthmark (PWB) of the face was used to identify risk of SWS. However, recent evidence has demonstrated that PWBs are vascular, not neurologic, in embryologic origin, and facial PWBs at highest risk for the brain involvement of SWS involve the forehead location. Furthermore, a PWB involving the upper or lower eyelid carries a risk of glaucoma, which requires lifelong monitoring. The gold standard of treatment for PWB is the pulsed dye laser, which has many advantages when started as early as possible in infancy. In this review, we discuss the locations of facial PWBs at risk for neurologic and ophthalmologic complications, the differential diagnosis of facial vascular birthmarks, recommendations for patient referral(s) when needed, and the advantages of early laser therapy when desired for the PWB. We also provide additional resources for pediatricians to support patients and their families.

ImportanceSturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking.ObjectiveTo consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs).Evidence reviewIn this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended.FindingsTreatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis.Conclusions and relevanceThese recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.

BackgroundHeterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors.ObjectiveWe sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14.MethodsSubjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed.ResultsWe identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab.LimitationsRelatively small sample size.ConclusionsMany subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution. Although benign, infantile hemangiomas can be associated with important complications. The use of beta-blockers has revolutionized the management of infantile hemangiomas. Other vascular tumors include pyogenic granulomas, congenital hemangiomas, and kaposiform hemangioendotheliomas, among others. Vascular malformations are categorized based on the type of involved vessel, including capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and mixed vascular malformations. Expert multidisciplinary management of vascular anomalies is critical to optimize outcomes in these patients. [Pediatr Ann. 2024;53(4):e129–e137.] [ABSTRACT FROM AUTHOR]

Port wine birthmarks (PWB) are capillary vascular malformations within the papillary and reticular dermis, most commonly occurring on the head and neck and may darken and thicken with age. Pulsed dye laser (PDL) is the gold standard of treatment for PWB as it selectively targets involved vessels. Sirolimus is a macrolide antibiotic that selectively inhibits mammalian target of rapamycin, thereby suppressing the angiogenesis pathways that can be activated by PDL. Sirolimus and PDL may be used together to treat PWB. We present a case series describing three cases of delayed ulceration and systemic sirolimus absorption following combination therapy, highlighting a potential complication and patient safety concern. [ABSTRACT FROM AUTHOR]

Cerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1‐positive HCCVM associated with familial CCM. Moreover, histopathology showed positive immunohistochemical stain with GLUT1, further expanding the differential diagnosis of GLUT1‐positive vascular anomalies. [ABSTRACT FROM AUTHOR]

Cast immobilization is performed in pediatric patients to support fracture healing, provide post‐operative protection, or correct congenital deformities. Pediatric dermatologists will likely encounter the casted patients in their practice. These patients may present with cast‐related complications that can arise due to the cast application or removal process, the inner cast environment, direct physical effects of the cast, or other external factors. This article provides a review of the dermatologic complications of cast immobilization, as well as useful recommendations for patients and their families. [ABSTRACT FROM AUTHOR]

Congenital hemangiomas (CH) are benign vascular tumors characterized by being fully developed at birth and following a variable postnatal course. We present the case of a newborn with a CH who experienced proliferation before developing an ulceration followed by rapid involution. This case expands the clinical spectrum of CH, highlighting the variable course of this vascular tumor. [ABSTRACT FROM AUTHOR]

Intralesional corticosteroid injections are frequently used to treat various musculoskeletal and dermatologic conditions, including keloid scarring. While a number of adverse events may be associated with these injections, hypopigmentation without atrophy is rare. We report a case of a pediatric patient with temporary cutaneous hypopigmentation without atrophy following intralesional corticosteroid injection in a keloid scar. [ABSTRACT FROM AUTHOR]

Background: In an effort to avoid numerous problems associated with narrative letters of recommendation, a dermatology standardized letter of recommendation was utilized in the 2014-2015 resident application cycle. Objective: A comparison of the standardized letter of recommendation and narrative letters of recommendation from a single institution and application cycle to determine if the standardized letter of recommendation met its original goals of efficiency, applicant stratification, and validity. Methods: Eight dermatologists assessed all standardized letters of recommendation/narrative letters of recommendation pairs received during the 2014-2015 application cycle. Five readers repeated the analysis two months later. Each letter of recommendation was evaluated based on a seven question survey. Letter analysis and survey completion for each letter was timed. Results: Compared to the narrative letters of recommendation, the standardized letter of recommendation is easier to interpret (p<0.0001), has less exaggeration of applicants' positive traits (p<0.001), and has higher inter-rater and intrarater reliability for determining applicant traits including personality, reliability, work-ethic, and global score. Standardized letters of recommendation are also faster to interpret (p<0.0001) and provide more information about the writer's background or writer-applicant relationship than narrative letters of recommendation (p<0.001). Limitations: This study was completed at a single institution. Conclusions: The standardized letter of recommendation appears to be meeting its initial goals of 1) efficiency, 2) applicant stratification, and 3) validity. (J Clin Aesthet Dermatol. 2016;9(9):36-2.). [ABSTRACT FROM AUTHOR]

Importance: This study explores referral patterns in pediatric dermatology and assesses the diagnostic concordance between referring and dermatology providers., Method: This retrospective cross-sectional study utilized referrals to an outpatient pediatric dermatology clinic. The review included patients referred between July 1, 2018 and June 30, 2019. Only patients who completed a clinic visit were included in the diagnostic concordance. Referral and first visit diagnoses were compared to determine concordance., Results: A total of 8,682 charts were reviewed, and 3,738 completed a clinic visit. The most common referral diagnoses included atopic dermatitis, rash, lesion, melanocytic nevus, and warts. Physicians (78.5%) and APRNs (18.1%) most frequently referred patients. The diagnostic concordance of physicians was 67.1% vs 66.3% for APRNs., Conclusion: Physicians and APRNs showed similar rates of diagnostic concordance, yet a large proportion of diagnoses were discordant. Primary care providers may benefit from focused education around the most commonly referred and missed diagnoses., Competing Interests: CONFLICTS OF INTEREST Esteban Fernandez-Faith is a consultant for Verrica Pharmaceuticals, Novartis, and Canfield Scientific. Brittany Kozy and Robin Alexander have no relevant conflicts of interest to disclose., (Copyright © 2024 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.)