Inpatient management of epidermolysis bullosa: Consensus-based hands-on instructions for neonates and postneonates.

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and postneonatal period. METHODS: A modified Delphi method (expert-based input via 2 surveys and a final review) was implemented. Available guidelines from EB Clinical Research Consortium centers were analyzed to determine areas of focus and formulate statements to be voted on by EB Clinical Research Consortium members, experienced EB nurses, and select family members. Study participants evaluated statements using a Likert scale: statements with at least 70% agreement were accepted; statements with 30% or more disagreement were rejected. RESULTS: Ten areas of focus were identified. Delphi participants included 15 dermatologists, 8 nurses, and 6 nonhealth care caregivers. Consensus was established on 103/119 neonatal statements and 105/122 postneonatal statements; no statements were rejected. Most recommendations applied to both age groups. LIMITATIONS: Recommendations may require adjustment based on individual patient's clinical context. CONCLUSION: Using the Delphi method, a consensus-derived resource for hospital-based health care professionals who manage patients with EB has been developed to improve the quality of inpatient care.

A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial.

BACKGROUND: Facial angiofibromas (FAs) are a major feature of tuberous sclerosis complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream formulation that protects rapamycin from oxidation has been developed in 0.5% and 1% concentrations. OBJECTIVES: To assess the efficacy and safety of a novel, stabilized topical rapamycin cream formulation. METHODS: This multicentre double-blind randomized placebo-controlled dose-response phase II/III study with a parallel design included participants aged 6-65 years with FAs of mild or moderate severity according to the Investigator's Global Assessment (IGA) scale. Participants were randomized to one of three treatment arms: topical rapamycin 0.5%, topical rapamycin 1% or placebo. Treatment was applied once daily for 26 weeks. Safety and efficacy measures were assessed at days 14, 56, 98, 140 and 182. The primary endpoint was the percentage of participants achieving IGA scores of 'clear' or 'almost clear' after 26 weeks of treatment. Secondary measures included Facial Angiofibroma Severity Index (FASI) and participant- and clinician-reported percentage-based improvement. Safety measures included the incidence of treatment-emergent adverse events and blood rapamycin concentration changes over time. RESULTS: Participants (n = 107) were randomized to receive either rapamycin 1% (n = 33), rapamycin 0.5% (n = 36) or placebo (n = 38). All treated participants were included in the final analysis. The percentage of participants with a two-grade IGA improvement was greater in the rapamycin 0.5% treatment group (11%) and rapamycin 1% group (9%) than in the placebo group (5%). However, this was not statistically significant [rapamycin 0.5%: odds ratio (OR) 1.71, 95% confidence interval (CI) 0.36-8.18 (P = 0.50); rapamycin 1%: OR 1.68, 95% CI 0.33-8.40 (P = 0.53)]. There was a statistically significant difference in the proportion of participants treated with rapamycin cream that achieved at least a one-grade improvement in IGA [rapamycin 0.5%: 56% (OR 4.73, 95% CI 1.59-14.10; P = 0.005); rapamycin 1%: 61% (OR 5.14, 95% CI 1.70-15.57; P = 0.004); placebo: 24%]. Skin adverse reactions were more common in patients following rapamycin application (64%) vs. placebo (29%). CONCLUSIONS: Both rapamycin cream formulations (0.5% and 1%) were well tolerated, and either strength could lead to clinical benefit in the treatment of FA.

Diagnosis and Management of Pediatric Psoriasis: An Overview for Pediatricians.

Pediatric psoriasis (PsO) and its associated comorbidities carry physical and psychosocial burdens in children and adolescents, which can negatively impact quality of life. However, features distinguishing pediatric PsO from eczema and other common inflammatory skin diseases may not be obvious to primary care providers, which may contribute to underrecognition and misdiagnosis. Accurate diagnosis of pediatric PsO is critical for managing the physical and psychological burdens associated with this disease. This review aims to support pediatricians with enough information to confidently diagnose pediatric PsO, assess associated physical and mental health comorbidities, and recommend first-line treatment options for children with mild to moderate PsO. To accomplish this, we provide information that distinguishes the appearance and symptoms of pediatric PsO from other common pediatric skin conditions. In addition, comorbidities and some of the mental health challenges associated with pediatric PsO are reviewed to help pediatricians provide appropriate care for patients in their clinical practice. Hebert AA, Browning J, Kwong PC, et al. Diagnosis and management of pediatric psoriasis: an overview for pediatricians. J Drugs Dermatol. 2023;22(8):742-752. doi:10.36849/JDD.7531.

Transition of care in patients with epidermolysis bullosa: A survey study.

There are little published data on the transition of care in EB. We conducted a survey study recruiting EB patients from the Dystrophic EB Research Association (debra) website and centers caring for high numbers of EB patients in the United States and internationally from Sept 17, 2019 to Nov 3, 2021. The majority of participants had not discussed the transition of care with their healthcare providers, nor the healthcare needs to be required as an adult. Ongoing pediatric subspecialty care was reported by 12% of adults, most commonly in pediatric dermatology. Identified barriers to transition included the perceived lack of adult providers' knowledge about EB patient healthcare needs. The results suggest the need for transition guidelines, early discussions with families about transition, and practical information for the adult providers accepting care.

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.

Toxic epidermal necrolysis-like acute graft-versus-host disease in pediatric bone marrow transplant patients: Case series and review of the literature.

BACKGROUND/OBJECTIVES: Complications of hematopoietic stem cell transplant (HSCT) include acute graft-versus-host disease (aGVHD). Severe cutaneous aGVHD can present with generalized erythroderma, desquamation, and bullae which can mimic toxic epidermal necrolysis (TEN). TEN occurs in response to a culprit medication. Transplant patients are often on many medications, making it difficult to distinguish between the two conditions. Given that TEN-like aGVHD is rare, we describe a case series of pediatric patients and review the literature. METHODS: This is a multi-institutional case series of children who developed TEN-like aGVHD following bone marrow transplantation. Demographic, clinical, and treatment information was collected. RESULTS: Ten patients were identified. Median age at transplantation was 8.5 years (range 0.12-17 years). Median time from transplant to first skin symptoms was 35 days (range 6-110 days) and to first TEN-like symptoms was 40 days (range 16-116 days). 7/10 had other organ GVHD involvement. All patients were on concurrent medications at time of first skin symptoms including immunosuppression for GVHD prophylaxis, infection prophylaxis or treatment, and pain medication. Treatments for TEN-like aGVHD included immunosuppression. CONCLUSIONS: We observe that patients with > or equal to 50% BSA involvement of their skin with TEN-like aGVHD, extracutaneous GVHD, and lack of reepithelization tend to have poor outcomes. Given the rarity of this condition, multidisciplinary care of these patients is important for accurate and timely diagnosis and treatment.

Mycosis Fungoides Preceding Pityriasis Lichenoides et Varioliformis Acuta by Twelve Years in a Pediatric Patient.

ABSTRACT: A 15-year-old boy presented to the pediatric dermatology department with long-standing patch stage CD8+ mycosis fungoides and subsequent development of recurrent pityriasis lichenoides et varioliformis acuta eruptions. There have been rare reports of patients with chronic, recalcitrant pityriasis lichenoides developing mycosis fungoides, but we believe this to be the second case of mycosis fungoides preceding a diagnosis of pityriasis lichenoides, and the first case reported in the pediatric population.

Localized eruptive porokeratosis in pediatric patients following treatment of acute leukemia.

Porokeratosis is a rare diagnosis in the pediatric population, and eruptive disease has been documented prior in patients with history of stem cell transplantation. Comparing various porokeratosis eruptions between patients can be difficult due to limitations in current classification and nomenclature. Here, we discuss a single-institution case series of three children who developed porokeratosis following hematopoietic stem cell transplantation for acute leukemia, and we propose that this presentation be termed localized eruptive porokeratosis (LEP). We present the distinguishing features of this variant by discussing the shortcomings in current nomenclature and also examine the association between porokeratosis and hematopoietic stem cell transplantation in the pediatric population.

Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database.

BACKGROUND/OBJECTIVES: Patients with epidermolysis bullosa (EB) require care of wounds that are colonized or infected with bacteria. A subset of EB patients are at risk for squamous cell carcinoma, and bacterial-host interactions have been considered in this risk. The EB Clinical Characterization and Outcomes Database serves as a repository of information from EB patients at multiple centers in the United States and Canada. Access to this resource enabled broad-scale analysis of wound cultures. METHODS: A retrospective analysis of 739 wound cultures from 158 patients from 13 centers between 2001 and 2018. RESULTS: Of 152 patients with a positive culture, Staphylococcus aureus (SA) was recovered from 131 patients (86%), Pseudomonas aeruginosa (PA) from 56 (37%), and Streptococcus pyogenes (GAS) from 34 (22%). Sixty-eight percent of patients had cultures positive for methicillin-sensitive SA, and 47%, methicillin-resistant SA (18 patients had cultures that grew both methicillin-susceptible and methicillin-resistant SA at different points in time). Of 15 patients with SA-positive cultures with recorded mupirocin susceptibility testing, 11 had mupirocin-susceptible SA and 6 patients mupirocin-resistant SA (2 patients grew both mupirocin-susceptible and mupirocin-resistant SA). SCC was reported in 23 patients in the entire database, of whom 10 had documented wound cultures positive for SA, PA, and Proteus species in 90%, 50%, and 20% of cases, respectively. CONCLUSIONS: SA and PA were the most commonly isolated bacteria from wounds. Methicillin resistance and mupirocin resistance were reported in 47% and 40% of patients tested, respectively, highlighting the importance of ongoing antimicrobial strategies to limit antibiotic resistance.

A retrospective multicenter study of fatal pediatric melanoma.

BACKGROUND: Pediatric melanoma is rare and diagnostically challenging. OBJECTIVE: To characterize clinical and histopathologic features of fatal pediatric melanomas. METHODS: Multicenter retrospective study of fatal melanoma cases in patients younger than 20 years diagnosed between 1994 and 2017. RESULTS: Of 38 cases of fatal pediatric melanoma identified, 57% presented in white patients and 19% in Hispanic patients. The average age at diagnosis was 12.7 years (range, 0.0-19.9 y), and the average age at death was 15.6 years (range, 1.2-26.2 y). Among cases with known identifiable subtypes, 50% were nodular (8/16), 31% were superficial spreading (5/16), and 19% were spitzoid melanoma (3/16). One fourth (10/38) of melanomas arose in association with congenital melanocytic nevi. LIMITATIONS: Retrospective nature, cohort size, and potential referral bias. CONCLUSIONS: Pediatric melanoma can be fatal in diverse clinical presentations, including a striking prevalence of Hispanic patients compared to adult disease, and with a range of clinical subtypes, although no fatal cases of spitzoid melanoma were diagnosed during childhood.

Botulinum toxin A for pain reduction in pediatric patients with Parry-Romberg syndrome.

Parry-Romberg syndrome (PRS) is characterized by hemiatrophy of facial structures, including skin, subcutaneous fat, muscle, bone, and cartilage. Complications associated with PRS include headaches, seizures, and chronic facial pain. Protocol for the treatment of chronic facial pain is not clear; reports on the use of botulinum toxin A injections for pain reduction in adults but not in the pediatric/adolescent population are available. Here, we discuss two pediatric PRS cases in which treatment with botulinum toxin A injections reduced or eliminated facial pain.

Congenital eccrine angiomatous hamartoma: Expanding the morphologic presentation and a review of the literature.

Eccrine angiomatous hamartoma (EAH) is a rare benign vascular hamartoma characterized histologically by an increased size and number of mature eccrine glands associated with multiple foci of dilated capillaries in the dermis and subcutis. EAH typically presents in children as discrete, solitary nodules, or plaques most commonly located on the extremities. Some cases of EAH have an agminated distribution involving classic locations, or present as solitary lesions in less common locations such as the face, scalp, or trunk. We report the case of congenital EAH in a child with atypical morphological features and pattern of distribution further expanding on the range of presentations classically described.

Polarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy.

Trichothiodystrophy is a rare autosomal recessive disorder resulting in a broad range of systemic abnormalities. Polarizing microscopy of the hair reveals the pathognomic "tiger tail" of alternating light and dark bands, but the need for a microscope prevents rapid bedside diagnosis. We describe a new technique for the bedside diagnosis of trichothiodystrophy using a handheld polarizing dermatoscope, precluding the need for microscopic examination.

Congenital melanocytic nevi: update in genetics and management.

PURPOSE OF REVIEW: The article intends to review recent updates in the management of congenital melanocytic nevi (CMN) and the evolving genomic landscape that has begun to shed light on the nature of nevogenesis, malignant potential, and possible therapeutic targets for those with melanoma and neurologic involvement. RECENT FINDINGS: CMN are the result of postzygotic somatic mutations involving key proteins in the mitogen-activated protein kinase pathway, primarily NRAS and BRAF. Complications include a spectrum of neurologic findings and development of melanoma. Patients with extracutaneous involvement may be better termed as having 'CMN syndrome'. MRI findings in high risk patients with multiple CMN may best predict clinical outcome. SUMMARY: The management of patients with CMN is complex. Neurologic involvement and melanoma remain the two most devastating complications. New, genetically targeted therapies for patients with complications may be of value, and research for potential therapies is ongoing.

Practical application of the new classification scheme for congenital melanocytic nevi.

A new consensus-based classification of congenital melanocytic nevi (CMN) has recently been proposed. It includes categories for projected adult size (PAS) and location, satellite nevi counts, and morphologic characteristics (color heterogeneity, rugosity, nodularity, and hypertrichosis). The objective of the current study was to test the applicability of the new categorization scheme and to correlate classification outcome with the patient's history of melanoma and neurocutaneous melanocytosis (NCM). Children and adults with CMN attending a patient conference in Dallas, Texas, in 2012 were invited to participate in the study. Anamnestical data were collected using a standardized questionnaire. Two dermatologists performed clinical examinations. Of 45 patients enrolled, 33 had a giant CMN (G1 [>40 cm PAS], n = 13; G2 [>60 cm PAS], n = 20), 12 had an NCM (5 symptomatic, 7 asymptomatic), and 1 had a history of melanoma. CMN size was positively correlated with NCM (p < 0.05). The classification system allowed an easy and detailed phenotypic characterization of each individual CMN. CMN size and morphology were difficult to assess in patients after surgical removal, and the number of satellite nevi at birth or during infancy was not always known. Our report provides practical aids for the application of the newly proposed CMN classification. Prospective evaluation of accurately classified patients in CMN registries will reveal the predictive value of the scheme. The small study sample limits meaningful conclusions regarding the correlation between CMN parameters and the risk of NCM and melanoma.

Blowing away the pain: a technique for pediatric pain management.

Painful medical procedures in childhood may have long-term negative effects on development and future tolerance of pain. We describe a distraction technique for pediatric pain management that involves "blowing away the pain." This technique may be used for acute pediatric procedures as well as for patients with chronic pain.

Crusted scabies misdiagnosed as erythrodermic psoriasis in a 3-year-old girl with down syndrome.

Scabies is a highly contagious infestation with the Sarcoptes scabiei var hominis mite. The variety of clinical presentations make timely, accurate diagnosis problematic. We report the case of a 3-year-old girl with Down syndrome and crusted scabies initially misdiagnosed as erythrodermic psoriasis.

Intravenous Ketamine Infusion as an Adjunctive Pain Treatment for Erythromelalgia: A Pediatric Case Report.

Erythromelalgia is a rare neurovascular pain condition characterized by erythematous, warm, and painful extremities. Symptoms are exacerbated by heat and relieved by cooling. Treatment is challenging and focuses on symptom control with various medications and therapies targeted toward eliminating destructive cooling behaviors. This pediatric case was notable because the patient's pain dramatically improved after a short-term, low-dose ketamine infusion, allowing her to finally wean off detrimental cooling practices of her extremities. Intravenous ketamine has rarely been described as an adjunctive analgesic strategy for erythromelalgia.

Keratitis-ichthyosis-deafness (KID) syndrome.

A 21-year-old man presented with a life-long history of diffusely thickened skin with a grainy-to-ridged surface, verrucous perioral plaques with radial fissures, and diffuse palmoplantar keratoderma with a stippled appearance. These skin findings were accompanied by sensorineural hearing loss and keratoconjunctivitis, a clinical triad diagnostic of keratitis-ichthyosis-deafness (KID) syndrome. The patient also had a history of recurrent infections and cysts on the scalp. This report draws attention to inflammatory nodules (representing ruptured folliculitis), cysts, and recurrent infections on the scalp as manifestations of KID syndrome and reviews the increasingly recognized risk of follicular tumors and squamous-cell carcinomas in patients with this conditions.