Inherited diseases and malformations

All Items

• A Case Series of 18 Congenital Haemangiomas: Clinical, Histological and Ultrasound Features, and their Relationship with Complications and Atypical Behaviour

  Gloria Juan-Carpena, Juan Carlos Palazón-Cabanes, Paloma Tallón-Guerola, Maria Niveiro-De Jaime, Isabel Betlloch-Mas

  adv00849

• A Family with Palmar and Plantar Hyperkeratosis: A Quiz

  Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer

  adv00064

• A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

  Sanaz Amin Guldmann, Anna Byrjalsen, Saher Shaker, Jesper Elberling

  adv00710

• A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours

  Meriem Ighilahriz, Sergey Nikolaev, Andrey A. Yurchenko, Maxime Battistella, Samia Mourah, Fanélie Jouenne, Emanuelle Bourrat, Nicole Basset-Seguin

  adv00434

• Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone

  Christiane S. Cussigh, Nina Trenkler, Jochen H.O. Hoffmann, Alexander H. Enk, Anke S. Lonsdorf

  adv00412

• Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation

  Kazunori Yokoi, Noriko Arase, Takashi Shimbo, Manabu Fujimoto, Atsushi Tanemura

  adv00858

• Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB

  Jeanne Ramspacher, Virginie Carmignac, Pierre Vabres, Juliette Mazereeuw-Hautier

  adv00806

• Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys

  Sang Gyun Lee, Song Ee Kim, Soo-Chan Kim, Sang Eun Lee

  adv00642

• Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

  Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Bygum

  adv00662

• Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases

  Juliette Mazereeuw-Hautier, Emmanuelle Bourrat, Emilie Tournier, Maxime Battistella, José Bernabeu-Wittel, Sébastien Barbarot, Ángela Hernández-Martín

  adv00408

• Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

  Ping-Chen Hou, Ken Natsuga, Wei-Ting Tu, Hsin-Yu Huang, Brandon Chen, Liang-Yu Chen, Wan-Rung Chen, Yi-Kai Hong, Yen-An Tang, Julia Yu-Yun Lee, Peng-Chieh Chen, H. Sunny Sun, John A. McGrath, Chao-Kai Hsu

  adv00522

• Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation

  Ken Shiraishi , Koji Sayama

  adv00667

• Cutaneous Expression of Familial Cancer Syndromes

  Anne-Johanne Andersen, Juliane Schierbeck, Anette Bygum, Nieves Puente-Pablo

  adv00505

• Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study

  Susan J. Robertson, Elizabeth Orrin, Manpreet K. Lakhan, Gavin O'Sullivan, Jessie Felton, Alistair Robson, Danielle T. Greenblatt, Catina Bernardis, John A. McGrath, Anna E. Martinéz, Jemima E. Mellerio

  adv00523

• Darier Disease – A Multi-organ Condition?

  Etty Bachar-Wikström, Jakob D. Wikström

  adv00430

• Effect of Beta-blockers on Extracranial Arteriovenous Malformations

  Sarah Chastanet, Annabel Maruani, Boris Laure, Denis Herbreteau, Aline Joly

  adv00680

• Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study

  Yue Li, Xia Yu, Chaolan Pan, Yumeng Wang, Jianwen Han, Zhirong Yao, Ming Li

  adv00392

• Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

  Yueqian Yu, Zhenzhen Wang, Zihao Mi, Lele Sun, Xi'an Fu, Gongqi Yu, Zheng Pang, Hong Liu, Furen Zhang

  adv00503

• Eruptive Xanthoma as a Cutaneous Manifestation in a 30-year-old Man with Klinefelter Syndrome

  Ruimiao Wu, Kaoyuan Zhang, Xia Dou

  adv00776

• Exacerbation of Hailey-Hailey Disease Following SARS-CoV-2 Vaccination

  Gil Armoni-Weiss, Sivan Sheffer-Levi, Liran Horev, Laurent Klapholz, Emily Avitan-Hersh, Abraham Zlotogorski, Yuval Ramot

  adv00554

• Generalized Reticulated Scars and Milia in a Neonate: A Quiz

  Jin-Yuan Ma, Tian Chen, Dong-Lai Ma

  adv00574

• Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib

  Xiangqian Li, Xia Wu, Dirk M. Elston, Jianzhong Zhang, Cheng Zhou

  adv00352

• ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

  Girolamo Mattioli, Andrea Diociaiuti, Sabrina Rossi, Giovanna Zambruno, Marcello Carlucci, Elisa Pisaneschi, May El Hachem

  adv00706

• Life-long Skin Eruptions along Blaschko’s Lines in a 27-year-old Woman: A Quiz

  Takahiro Hamada, Kwesi Teye, Eri Katayama, Miyuki Kawamura, Hiroshi Koga, Norito Ishii, Takekuni Nakama

  adv00610

• Mal de Meleda: Diagnostic Work-up and Therapy with Low-dose Acitretin

  Isabella Pospischil, Klaus Enzelsberger, Susanne Gross, Wolfram Hoetzenecker, Tobias W. Fischer

  adv00758

• More about Zlotnikov, the Man Who Explained Blaschko’s Lines to be a Mosaic

  Rudolf Happle, Eckart Haneke

  adv00521

• Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases

  Jiangfan Yu, Bingsi Tang, Xinglan He, Puyu Zou, Zhuotong Zeng, Rong Xiao

  adv00658

• Patient-reported Outcome Measures for Angioedema: A Literature Review

  Anna Trier Heiberg Brix, Henrik Balle Boysen, Karsten Weller, Teresa Caballero, Anette Bygum

  adv00456

• Patients with Darier Disease Exhibit Cognitive Impairment while Patients with Hailey-Hailey Disease Do Not: An Experimental, Matched Case-control Study

  Philip Curman, Johanna Bern, Linnea Sand, Martin Cederlöf, Etty Bachar-Wikström, Jakob D. Wikström

  adv00476

• Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin

  Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süßmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer

  adv00397

• Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation

  Akito Hasegawa, Satoru Shinkuma, Ryota Hayashi, Yutaka Shimomura, Riichiro Abe

  adv00547

• Pyoderma Gangrenosum in a Splenectomy Incision in a Patient with Haemolytic Anaemia due to Hereditary Spherocytosis: a Case Report and Literature Review

  Piotr K. Krajewski, Iwona Chlebicka , Jacek C. Szepietowski, Joanna Maj

  adv00599

• Seven- and 23-year-old Siblings with Papulonodular Lesions after Sun Exposure: A Quiz

  Davide Neri, Karola Maria Stieler, Annika Vogt, Kamran Ghoreschi, Ulrike Blume-Peytavi

  adv00513

• Symmetrical White Transparent Papules: A Quiz

  Zhen-Ting Lin, Jiang-Wei Cheng, Hao Guo, Jiu-Hong Li

  adv00720

• The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study

  Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Angela Filoni, Carmelo Schepis, Maddalena Siragusa, Iria Neri, Annalucia Virdi, Daniele Castiglia, Giovanna Zambruno, Christine Bodemer, May El Hachem

  adv00477

• Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid

  Yuki Arisawa, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Takuya Takeichi, Masashi Akiyama

  adv00423

• Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

  Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth

  adv00546