Cases of the Year

The following will be presented during the Cases of the Year sessions on Friday, July 7; Saturday, July 8; and Sunday, July 9.

Friday, July 7

C-1: An Unusual Lipodystrophy Syndrome in Two Siblings: An Association Between Proteasome-Associated Autoinflammatory Syndrome and Hemophagocytic Lymphohistiocytosis?
Sonia Kamath, Minnelly Luu

C-2: Autoinflammatory Disease Associated to NF-KB Mutation: A New Entity
Carla Castro, Alejandro Olivera, Sabina Herr, Mariangeles Dominguez, Javier Anaya, Corina Busso, Antonio Torrelo

C-3: Jobs Syndrome: Excellent Response to High Dose Intravenous Immunoglobulin G
Maryann Marrón Hernández, Perla Meneses, Germán Placencio, Francisco González, Jenny Garmendia, Ana María Sáenz

C-4: Skin and Blood Immunophenotyping of Erythrokeratodermia-Cardiomyopathy Syndrome: Dramatic Results with Targeted Therapy
Thy Huynh, Kristen Holland, Tali Czarnowicki, Gary Tran, Sarah Lyon, Yael Renert-Yuval, Gabrielle Geddes, Emma Guttman-Yassky, Amy Paller

C-5: CEDNIK Syndrome
Arti Nanda

C-6: Successful Resolution of Persistent Erythroderma in Omenn Syndrome with Dilute Bleach Bath Compresses and Systemic Corticosteroids
Margaret Wat, Arielle Olicker, Howard Meyerson, Susan Nedorost, Amy Paller, Kevin Cooper

C-7: Cutaneous Involment in Three Cases of X-linked Chronic Granulomatous Disease
Zhaoyang Wang, Zigang Xu, Jianxin He, Li He, Zhe Xu, Lin Ma

C-8: Cannabidiol (CBD) Oil Use In Epidermolysis Bullosa
Zachary Zinn, Malcolm Pyles, Joyce Teng, Phuong Khuu

C-9: A New Mutation of SMARCAD1 in a Case of Basan Syndrome (Congenital Milia and Lack of Fingerprints)
Minia Campos-Domínguez, Marta Feito-Rodríguez, Irene Molina-López, Raúl De Lucas-Laguna, Victor Martínez-Glez, Ricardo Suárez-Fernández

C-10: Progressive Reticulate Hyperpigmentation in Three Brothers Diagnosed By Whole Exome Gene Sequencing
Susan Boiko

Saturday, July 8

C-11: Young Boy Suffering from an Atypical Acne
Pierre-Olivier Grenier, Isabelle Auger

C-12: Neurofibromatosis Type 1 and Leiomyosarcoma: A New Case
Siham Mansouri, Nadia Ismaili, Badreddine Hassam

C-13: A Case of Painful Congenital Digital Tumors and Bony Lesions
Leah Swanson, Daniela Russi, David Carpentieri, Theresa Grebe, Harper Price

C-14: Alveolar Congenital Rhabdomyosarcoma with Cutaneous and Brain Metastasis: Case Report
Ximena Chaparro, Maria Trinidad Hasbún, Cecilia Fischer, Francisca Reculé

C-15: Cutaneous Lymphangiectasia in a Patient with Primary Intestinal Lymphangiectasia
Wai Mun Sean Leong, Nisha Suyien Chandran

C-16: Postzygotic Mosaic GNA11 Mutation in a Child with Diffuse Capillary Malformation and Normal Pigmentation: Do Constitutional Variants Influence Expression of Postzygotic Mosaic Mutations?
Jack Steiner, Dawn Siegel, Jenna Streicher, Catherine Cottrell, Beth Drolet

C-17: Blue Rubber Bleb Naevus Syndrome in a Neonate Treated with Sirolimus
Monika Tasani, Mary Glover

C-18: Severe High-Flow Arteriovenous Malformations Successfully Treated with Embolization and Sirolimus (Rapamycin)-Eluting Stent
Patricio Vargas, Camila Downey, Benjamin Horwitz, Daniela Kramer

C-19: Successful Preventive Treatment of a Patient with Proteus Syndrome with Sirolimus
Lisa Weibel, Agnes Schwieger-Briel, Martin Theiler

C-20: An Unusual Segmental Vascular Anomaly: Extending the Spectrum of Noninvoluting Congenital Hemangioma via Tissue Genomics
Emily West, Ilona Frieden

Sunday, July 9

C-21: In Lieu of C2: A Rare Case of Life-Threatening Infantile Onset Systemic Lupus Erythematosus with Severe Cutaneous Manifestations
Krishna Mutgi, Esteban Fernandez Faith, Katya Harfmann, Patricia Witman

C-22: Linear Comedonic Lupus in a Child: An Unusual Presentation Successfully Treated with Hydroxychloroquine
Alice Phan, Brigitte Balme, Pierre Cochat, Yahia Mekki

C-23: Large-Scale Skull Osteolysis Secondary to Linear Morphoea: A Case Report
Yao Lu

C-24: Severe Infantile Pyoderma Gangrenosum 'Mimicking' a Burn Successfully Managed with Anakinra
Matthew Mansh, Sara Hylwa, Mona Riskalla, Christina Boull, Sheilagh Maguiness

C-25: Burrowing Bug (Cydnidae) Pigmentation: A New Arthropod Dermatosis
Arun Inamadar

C-26: Congenital Chikungunya Rash with Dystrophic Calcification
Sahana Srinivas, Pradeep GCM

C-27: IVIG Therapy for Recalcitrant Infantile Bullous Pemphigoid
India Hill, Jennifer Bares, Christopher English, Amy Theos

C-28: Paraneoplastic Autoimmune Multiorgan Syndrome - Case Series in Children
Dharshini Sathishkumar, Poonam Agrawal, Sheila Nair, Meera Thomas, Renu George

C-29: A Fatal Case of Drug-Induced Hypersensitivity Syndrome Complicated by Multiple Autoimmune Disorders Including Bullous Pemphigoid
Grant Plost, Emily Gurnee, Zakiya Rice, Benjamin Stoff, Mary Spraker, Leslie Lawley

C-30: Full Term Newborn Infant with Blistering Skin Lesions: Caution Regarding Use of Pain Medications
Aamir Hussain, Melinda Sanders, Naveed Hussain