Cristian D Gonzalez1, Sarah D Cipriano2, Christina A Topham3, David A Stevenson4, Kevin J Whitehead5, Sheryll Vanderhooft3, Angela P Presson6, Jamie McDonald7. 1. University of Utah Affiliated Hospitals, Salt Lake City, Utah. 2. Department of Dermatology, Salt Lake City, Utah. 3. University of Utah School of Medicine, Salt Lake City, Utah. 4. Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California. 5. Division of Cardiovascular Medicine, Pediatric Cardiology, Molecular Medicine Program, University of Utah, Salt Lake City, Utah; George E. Wahlen Veterans Administration Medical Center, Salt Lake City, Utah. 6. Division of Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah. 7. Department of Pathology, University of Utah, Salt Lake City, Utah; Department of Radiology, University of Utah, Salt Lake City, Utah. Electronic address: Jamie.McDonald@hsc.utah.edu.
Abstract
BACKGROUND: The location of telangiectases in hereditary hemorrhagic telangiectasia (HHT), as set forth in the consensus diagnostic (Curaçao) criteria, is based primarily on adults. OBJECTIVE: Document the locations and numbers of telangiectases in a cohort of pediatric patients with HHT. METHODS: A retrospective chart review using a standardized data collection form for site and number of telangiectases was performed for pediatric patients with HHT (age, 0-18 years) from 2005 to 2016. RESULTS: Of 90 pediatric patients with HHT, 71% had one or more telangiectases. Of all the telangiectases counted (N = 319), cutaneous telangiectases were more common (73%) than oral telangiectases (27%). The hands were the most frequent site, accounting for 33% of all telangiectases. Adolescents were more likely than children to have cutaneous telangiectases (85% vs 50% [Q = 0.005]). The most frequent sites in children younger than 10 years were the hands excluding the fingers (27%), fingers (25%), and face (23%). Only 23% of subjects (21 of 90) presented with multiple (≥3) telangiectases at locations considered characteristic for the current consensus diagnosis guidelines (lips, oral cavity, and fingers). LIMITATIONS: Ascertainment bias based on recruitment. CONCLUSIONS: In this pediatric population, telangiectases at sites not included as "characteristic" by the Curaçao diagnostic criteria were common. The Curaçao criteria in regard to both number and location of telangiectases may be inadequate in the pediatric HHT population.
BACKGROUND: The location of telangiectases in hereditary hemorrhagic telangiectasia (HHT), as set forth in the consensus diagnostic (Curaçao) criteria, is based primarily on adults. OBJECTIVE: Document the locations and numbers of telangiectases in a cohort of pediatric patients with HHT. METHODS: A retrospective chart review using a standardized data collection form for site and number of telangiectases was performed for pediatric patients with HHT (age, 0-18 years) from 2005 to 2016. RESULTS: Of 90 pediatric patients with HHT, 71% had one or more telangiectases. Of all the telangiectases counted (N = 319), cutaneous telangiectases were more common (73%) than oral telangiectases (27%). The hands were the most frequent site, accounting for 33% of all telangiectases. Adolescents were more likely than children to have cutaneous telangiectases (85% vs 50% [Q = 0.005]). The most frequent sites in children younger than 10 years were the hands excluding the fingers (27%), fingers (25%), and face (23%). Only 23% of subjects (21 of 90) presented with multiple (≥3) telangiectases at locations considered characteristic for the current consensus diagnosis guidelines (lips, oral cavity, and fingers). LIMITATIONS: Ascertainment bias based on recruitment. CONCLUSIONS: In this pediatric population, telangiectases at sites not included as "characteristic" by the Curaçao diagnostic criteria were common. The Curaçao criteria in regard to both number and location of telangiectases may be inadequate in the pediatric HHT population.
Authors: Daniel A Snellings; Carol J Gallione; Dewi S Clark; Nicholas T Vozoris; Marie E Faughnan; Douglas A Marchuk Journal: Am J Hum Genet Date: 2019-10-17 Impact factor: 11.025
Authors: Christiane S Hampe; Julie B Eisengart; Troy C Lund; Paul J Orchard; Monika Swietlicka; Jacob Wesley; R Scott McIvor Journal: Cells Date: 2020-08-05 Impact factor: 6.600