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 PDFHigh-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition.
View Article and Find Full Text PDFThe 10th Pediatric Dermatology Research Alliance (PeDRA) Annual Conference occurred November 3-5, 2022 in Bethesda, Maryland. This conference was the first in-person PeDRA conference after 2 years of a virtual format due to COVID-19. Fittingly, given the effects of the pandemic, the conference theme was "Reimagining Community.
View Article and Find Full Text PDFThere 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.
View Article and Find Full Text PDFConradi-Hünermann-Happle syndrome is rare X-linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi-Hünermann-Happle syndrome.
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