Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis.

Recessive dystrophic epidermolysis bullosa (EB) is a rare disease characterized by painful blistering and erosion of the skin, sometimes referred to as "butterfly skin disease" because patients' skin becomes as fragile as butterfly wings. In addition to severe dermatologic manifestations, EB patients also experience complications affecting epithelial surfaces including the gastrointestinal tract. While gastrointestinal complications such as oral mucosal ulceration, esophageal strictures, constipation, and gastroesophageal reflux are common in EB patients, reports of colitis are rare.

Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.

Background: Pigmentary mosaicism (PM) is a descriptive term encompassing a range of hyper- and hypo-pigmented phenotypes in various patterns. Information from the neurology literature initially noted neurological abnormalities (NA) in up to 90% of children with PM. The dermatology literature suggests lower associated rates (15%-30%) of NA.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

Background/objectives: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g.

Paraneoplastic pemphigus associated with Castleman disease: A multicenter case series.

Introduction: Paraneoplastic pemphigus (PNP) is a rare, often fatal, autoimmune blistering disease of the skin and mucous membranes. In children, PNP is frequently associated with Castleman disease (CD). This series describes five cases of PNP associated with CD.

Improved erythema and decreased blister formation in dominant dystrophic epidermolysis bullosa following treatment with pulsed dye laser.

Dominant dystrophic epidermolysis bullosa (DDEB), an inherited disorder due to type VII collagen mutations, is characterized by blisters and erosions that heal with scarring, atrophy, and milia. There is no established role for laser in the management of patients with DDEB. Pulsed dye laser (PDL) is most often used to target vascular skin lesions.

Central nervous system magnetic resonance imaging abnormalities and neurologic outcomes in pediatric patients with congenital nevi: A 10-year multi-institutional retrospective study.

Background: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines.

Objective: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes.

Methods: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN.

Utility of routine patch testing prior to surgical repair of pectus excavatum: A multidisciplinary experience via retrospective review at a single tertiary care center.

Background: The Nuss procedure is the only implant procedure in which routine, rather than selective, preoperative patch testing is recommended. This practice has recently been called into question.

Objective: To evaluate an updated experience of pre-implant patch testing in patients undergoing the Nuss procedure.

Proliferating pilomatricoma in a 9-year-old girl.

Proliferating pilomatricoma is a rare, benign tumor of hair matrix origin that rarely occurs in children. We report the case of a 9-year-old girl with a rapidly growing, proliferating pilomatricoma located on the glabella. The lesion was embolized and surgically excised, with histopathological examination of the tissue confirming the diagnosis of proliferating pilomatricoma.

Petroleum jelly baths: A tip for easy emollient application.

Petroleum jelly has long been a favorite treatment option of dermatologists for atopic dermatitis, despite complaints of "greasiness" by patients and their parents. Here, we describe a simple application method that effectively traps moisture against the skin while leaving behind only a thin layer of product, thus eliminating the "greasiness" associated with petroleum jelly.