No abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis.

The objective of this study was to evaluate willingness-to-pay stated preferences for telemedicine versus in-person clinic visits in patients with a history of psoriasis or melanoma. Face-to-face interviews were conducted with 92 (n = 92) adult participants with a history of psoriasis or melanoma recruited primarily from hospital-based dermatology practices. Data were collected on patient demographics and willingness-to-pay responses. In a combined analysis for patients with melanoma and psoriasis, 73% of participants preferred telemedicine over in-person visits if access to the physician was quicker. The majority of those choosing telemedicine (95%) were also willing to pay a median of 25 dollars(5 dollars-500 dollars) out-of-pocket. When time to see a physician was held constant for telemedicine and in-person visits, 19% of participants preferred telemedicine and about 58% of these participants were willing to pay a median of 25 dollars(10 dollars-125 dollars) out-of-pocket. This preliminary work suggests that dermatology patients prefer telemedicine if this modality provides quicker access to their physician.

The objective of this study was to describe the clinical features of Sweet syndrome in children. Our study population consisted of seven children diagnosed with Sweet syndrome over a 22-year period. Age, sex, appearance and location of lesions, associated signs and symptoms, past medical history, pathology, and subsequent disease course were documented for each patient. Fever and typical lesions were reported in most of patients in our study. The majority of patients presented with less-typical findings, such as pustules, vesicles, bullae, oral ulcerations, atrophic scars, and evidence of pathergy. Of the seven children in our study, four were found to have a preceding nonspecific upper respiratory or gastrointestinal infection, and two were diagnosed with an underlying hematologic malignancy. Our results suggest that atypical lesions are relatively common in children with Sweet syndrome and that underlying malignancy is associated with a minority of cases of pediatric Sweet syndrome.

One of the major morbidities of patients with epidermolysis bullosa is the tendency to develop chronic wounds, which predisposes them to multiple complications including life-threatening infections, failure to thrive, and squamous cell carcinomas. Chronic wounds frequently become colonized with bacteria, and we sought to identify the most common microorganisms isolated on cultures from patients with epidermolysis bullosa. We conducted a retrospective review of positive wound, nasal, and blood cultures, including bacterial, fungal and viral, in 30 patients with epidermolysis bullosa. Staphylococcus sp., Streptococcus sp., diptheroids, Pseudomonas aeruginosa, and Candida sp. were the most commonly isolated microorganisms in wound cultures from our epidermolysis bullosa patients. Two patients had viral cultures that grew herpes simplex virus type-1. Bacterial colonization of chronic wounds can lead to infections and may also impact wound healing. Results from this study provide data on which to base empiric antibiotic choice in patients with epidermolysis bullosa when needed and may be useful in planning strategies for decolonization and improved wound healing in this population.

Nevi or nests of cells may be made up of a variety of cell types. The cell types that live in the epidermis include epidermal cells or keratinocytes, sebaceous glands, hair follicles, apocrine and eccrine glands, and smooth muscle cells. This article discusses epidermal or keratinocyte nevi, nevus sebaceous, nevus comedonicus, smooth muscle hamartomas, and inflammatory linear verrucous epidermal nevi. Syndromes associated with epidermal nevi are also reviewed.

Studies have suggested there is a shortage of pediatric dermatologists in the United States, but the workforce has not been well defined. The Society for Pediatric Dermatology (SPD) Workforce Committee sought to characterize the US pediatric dermatology workforce with a nine‐question survey, sent to all 484 US SPD members in December 2016. The response rate was 30%. Most pediatric dermatologists were practicing in major metropolitan markets, seeing an average of 80 patients a week with an average 6‐week wait time. These findings indicate that geographic maldistribution and long wait times for new patient appointments remain substantial hurdles for adequate access to subspecialty pediatric dermatology care.

A 5-month-old healthy female presented with a pyogenic granuloma on the cheek. The lesion was treated with topical 0.5% gel-forming solution, resulting in regression of the lesion after 1 month of treatment and no recurrence at 8 months. This case suggests that treatment of pyogenic granulomas with topical timolol may be considered, especially when other treatment modalities are challenging or could result in significant scarring.