ABSTRACT
Down 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. This study addresses these disparities by capturing how various skin conditions affect the QoL of people with DS and their caregivers and assessing the utility of the DLQI.
ABSTRACT
High-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. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
Subject(s)
Arteriovenous Malformations , Capillaries/abnormalities , Hamartoma Syndrome, Multiple , Port-Wine Stain , Telangiectasia, Hereditary Hemorrhagic , Vascular Malformations , Humans , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Arteriovenous Malformations/complications , Arteriovenous Malformations/diagnosis , Arteriovenous Malformations/genetics , Doxorubicin , PTEN Phosphohydrolase/geneticsABSTRACT
The 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." The conference included presentations and panel sessions on finding individual and collective purpose, leveraging community in pursuit of a shared goal, and creating a community of resources in collaboration with NIH. The goal of this meeting was to connect clinicians, basic scientists, patients, patient advocates, and industry partners. The reimagined community of pediatric dermatology research is a synergistic space for all members to better understand, prevent, treat, and cure dermatologic diseases and conditions in children. This two-and-a-half-day conference with over 300 attendees featured educational seminars including a keynote address, didactic lecture and panel sessions, skill-building workshops, 13 topic-specific breakout sessions, and an interactive poster session where 108 active and finished research projects could be discussed.
Subject(s)
COVID-19 , Dermatology , Physicians , Child , Humans , Patients , ResearchABSTRACT
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.
Subject(s)
Epidermolysis Bullosa Dystrophica , Epidermolysis Bullosa , Child , Adult , Humans , Patient Transfer , Epidermolysis Bullosa/therapy , Surveys and Questionnaires , Health PersonnelABSTRACT
Conradi-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.
