Nevi - when to refer.

PURPOSE OF REVIEW: Congenital melanocytic nevi (CMN) and acquired nevi are prevalent in pediatric populations, with distinct characteristics and management considerations. This chapter aims to equip pediatricians with knowledge to discern between benign and high-risk nevi, facilitating appropriate referrals and management within primary care settings. Risk factors associated with malignant melanoma (MM) underscore the importance of vigilant monitoring and early referral to dermatology for suspicious lesions. RECENT FINDINGS: Recent findings highlight the variability in CMN presentation and the evolving diagnostic strategies, emphasizing the need for multidisciplinary approaches to optimize patient outcomes. SUMMARY: Management of CMN involves tailored surveillance and intervention strategies, with an emphasis on early identification of high-risk features for MM and neurocutaneous melanosis (NCM). Pediatricians play a crucial role in advocating for sun protection practices and facilitating timely referrals, thereby contributing to the overall well being of pediatric patients with nevi.

Capillary Malformations.

Capillary malformations (CMs) are the most common vascular anomalies, composed of enlarged capillaries and venules with thickened perivascular cell coverage in skin and mucous membranes. These congenital anomalies represent an error in vascular development during embryogenesis. Most of the CMs occur without any syndromic findings; the association between CMs systemic anomalies in some patients, however, makes the recognition of additional syndrome features critical. Some genetic disorders discussed, which feature CMs, include Sturge-Weber syndrome, diffuse CMs with overgrowth, Klippel-Trenaunay syndrome, CLOVES syndrome, among others. This article can aid clinicians in better identifying CMs and associated syndromes and provide consistent terminology to facilitate interdisciplinary management.

A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.

BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE: To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB. METHODS: A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal. RESULTS: A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%). LIMITATIONS: Retrospective design. CONCLUSIONS: Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.

Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations.

A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice. Emerging evidence contributes to recommendations for screening MRI to evaluate for neural melanosis and related central nervous system complications, however, more research is needed. Risk for melanoma is generally low, but those with large, giant, or multiple CMN have a higher risk. Multidisciplinary care, with a focus on family and patient preferences, is of paramount importance. Without standardized screening and management guidelines, questions abound regarding appropriate physical examination intervals, potential treatment including full or partial excision, timing and frequency of imaging, melanoma risk, and assessment for neural melanosis. This review highlights the current state of knowledge concerning care of patients with CMN, reveals gaps in the literature surrounding skin care, and provides management recommendations. We additionally discuss cutaneous complications of CMN, such as pruritus, hypertrichosis, and wound healing. Resources and references for families and providers can help patients navigate this sometimes challenging diagnosis. Finally, we contribute expert care recommendations to the current body of literature as a foundation for the development of future, more comprehensive care guidelines.

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's mother. Alopecia secondary to RMD is an under recognized entity and should be included in the differential diagnosis of pediatric alopecia.

UV radiation exposure in welders: impact on the skin and eyes.

Arc welding is an occupation with exposure to intense bursts of UV radiation (UVR). Although industrial settings may be aware of UV light exposure during welding, physicians may be unaware of this source. We report 3 welders with skin diseases that may have been caused or exacerbated by occupational UV light exposure: refractory subacute cutaneous lupus erythematosus, diffuse actinic damage spared by the area protected by safety goggles, and squamous cell carcinoma developed outside of the area protected by a face shield. We review UVR exposure in arc welders, cutaneous adverse effects, and safety recommendations.

ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.

Common Neonatal Rashes.

Skin eruptions are commonly encountered in the neonatal and infant period and can be a source of concern for providers and parents alike. We present a brief, clinically focused discussion on topics commonly encountered by the pediatrician with a focus on pearls of knowledge to help distinguish diseases from one another and from more serious conditions. We review miliaria, transient neonatal pustular melanosis, neonatal cephalic pustulosis, erythema toxicum neonatorum, diaper dermatitis, seborrheic dermatitis, and atopic dermatitis. Treatment strategies are also discussed. [Pediatr Ann. 2019;48(1):e16-e22.].