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

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

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

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

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

CEDNIK Syndrome
Arti Nanda

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

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

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

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-González, Ricardo Suárez-Fernández

Progressive Reticulate Hyperpigmentation in Three Brothers Diagnosed By Whole Exome Gene Sequencing
Susan Boiko

Saturday, July 8

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

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

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

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

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

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

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

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

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

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

Sunday, July 9

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

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

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

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

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

Congenital Chikungunya Rash with Dystrophic Calcification
Sahana Srinivas, Pradeep GCM

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

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

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

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