Pediatric dermatology patients with intellectual and developmental disabilities (IDD) and comorbid cutaneous conditions often face barriers to effective healthcare due to differences in communication preferences and sensitivities to environmental factors. The clinical intake process serves as a potential intervention point to help better understand and meet patients' needs. Strengths-based assessment and considerations around identity-first versus person-first language are tools that can improve the clinical intake process in pediatric dermatology.
View Article and Find Full Text PDFDown syndrome (DS) is associated with many dermatological conditions, including hidradenitis suppurativa, folliculitis, and alopecia areata. Despite the high incidence of skin conditions in this population, there are no quality of life (QoL) studies in the dermatology literature focused on patients with DS or their caregivers. The frequently used QoL assessment tool, the Dermatology Life Quality Index (DLQI), has yet to be studied in this population.
View Article and Find Full Text PDFMetopic ridge (MeR) is a midline osseous forehead prominence resulting from physiologic closure of the underlying metopic suture. This mass-like ridge can be mistaken for serious conditions such as a craniosynostosis or vascular anomaly, prompting concern and workup. We reviewed patients presenting for a forehead mass to Vascular Anomalies and Dermatology clinics and diagnosed with MeR to increase familiarity with this finding and to encourage MeR in the differential diagnosis of pediatric midline forehead masses.
View Article and Find Full Text PDFDown syndrome (DS) is the most common chromosomal condition and affects many organs including the skin. Dermatologists are an integral part of the DS care team. This is a review of both common and rare dermatologic conditions in DS.
View Article and Find Full Text PDFBackground: Current literature addressing dermatologic conditions associated with Down syndrome is limited, with emphasis on rare skin conditions and lack of consensus on the incidence of more common disorders.
Objective: We sought to evaluate dermatologic conditions in patients with Down syndrome diagnosed and managed by dermatologists.
Methods: This was a retrospective analysis of 101 pediatric and adult patients with Down syndrome seen by the University of Massachusetts Dermatology Department between 2008 and 2018.
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses.
View Article and Find Full Text PDFPhototherapy can be a safe and effective treatment for various skin diseases in children. Special considerations governing the use of this treatment modality in pediatric populations include patient, family, and facility-based factors that are oriented around heightened concerns with regard to safety and tolerability of treatment. Although phototherapy has been found to be effective in a wide range of dermatologic conditions affecting pediatric populations, including psoriasis, atopic dermatitis, pityriasis lichenoides, cutaneous T-cell lymphoma, and vitiligo, there is need for additional research on other conditions in which phototherapy has shown promise.
View Article and Find Full Text PDFPurpose Of Review: Vitiligo and alopecia areata are common, disfiguring skin diseases. Treatment options are limited and include nontargeted approaches, such as corticosteroids, topical calcineurin inhibitors, narrow band ultraviolet B phototherapy, and other immune-modifying agents. The purpose of this article is to review shared, novel mechanisms between vitiligo and alopecia areata, as well as discuss how they inform the development of future targeted treatments.
View Article and Find Full Text PDFCapillary malformation (CM) can be a "red flag" for several syndromic vascular anomalies. We identified a subset of patients with diffuse CM and fetal pleural effusion and documented the type of CM, the etiology of the pleural effusion, the potential syndromic diagnosis, and outcome. Patients with a history of CM and fetal pleural effusion were identified by searching the database of patients evaluated at the Vascular Anomalies Center at Boston Children's Hospital.
View Article and Find Full Text PDFHutchinson-Gilford progeria syndrome (HGPS) is a rare, uniformly fatal, premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Children's Hospital, limited to cutaneous history from birth to 24 months.
View Article and Find Full Text PDFAlthough it is known that hematopoietic stem cell transplantation (HSCT) survivors are at risk of nonmelanoma skin cancer (NMSC), there is limited literature on the incidence of NMSC during childhood in this population. We present 4 HSCT patients ages 13 to 20 years diagnosed with NMSC in our clinic over a 1-year period. Each patient had multiple risk factors associated with NMSC including chronic graft-versus-host disease, prolonged immunosuppression, total-body irradiation, and voriconazole therapy.
View Article and Find Full Text PDFContext: Although systemic analgesic therapies are the mainstay of pain treatment in pediatric palliative care, there are cases where they fail to adequately relieve symptoms or produce side effects that undermine effectiveness. Regional anesthesia may be considered as a potential therapy for these patients.
Objectives: To review the literature on regional techniques in pediatric patients with life-limiting and chronic conditions, including pain from tumor infiltration, chest pain in advanced pulmonary disease, chronic abdominal pain, phantom limb pain, and spasticity and dystonia.