Inherited diseases and malformations

All Items

• Malignant Transformation in Porokeratosis Ptychotropica: A Systematic Review

  Chee H. Loh, Chris L. Tan, Kong B. Tan, Holger Sudhoff, Peter Goon

  adv40558

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

  Rudolf Happle, Eckart Haneke

  adv00521

• Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease

  Hiroshi Koga, Marie Takagi, Kwesi Teye, Fumi Kuwahara-Sakurada, Norito Ishii, Takahiro Hamada, Takekuni Nakama

  adv12337

• Multiple Acantholytic Acanthomas in Junctional Epidermolysis Bullosa

  Sota Itamoto, Ken Natsuga, Takashi Seo, Shota Takashima, Hideyuki Ujiie

  adv42258

• Multiple Erythematous Oedematous Plaques on the Neck of a 68-year-old Man: A Quiz

  Phanitanun Phusanawiwat, Patcharawadee Thongkumkoon, Siri Chiewchanvit, Chatree Chai-Adisaksopha, Mati Chuamanochan

  adv43241

• Multiple Papules and Nodules in a Dermatomal Distribution: A Quiz

  Roberto Russo, Ilaria Salvi, Antonio Guadagno, Aurora Parodi, Emanuele Cozzani

  adv43203

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

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

  adv00658

• Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient

  Ryo Fukaura, Kana Tanahashi, Michiya Omi, Takuya Takeichi, Masashi Akiyama

  adv41072

• Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma

  Pauline Bernard, Nuria Pell, Juliette Mazereeuw-Hautier, Nathalie Jonca

  adv42502

• Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma

  Xiukuan Xu, Zhimiao Lin, Yayan Lin, Hong Kang, Cuirong Xiao

  adv44612

• PAPASH Syndrome with a Pathogenic PSTPIP1 p.(Ala230Thr) Variant: A Case Report of Therapeutic Complexity

  Meri Tikka, Tiina Ilves

  adv43622

• 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

• Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation

  Noor Almaani, Heba Al-Lala, Laith Al-Showbaki, Dunia Aburizeg, Bilal Azab

  adv40445

• 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
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  Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study

  Laura Krogh Herlin, Sigrún A.J. Schmidt, Trine H. Mogensen, Mette Sommerlund

  adv43101

• 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

• Somatic Variants of KRT1/KRT10 Identified by Next-generation Sequencing in Patients with Epidermal Nevi

  Shuya Sun, Ran Mo, Zhiming Chen, Yong Yang, Ruiyu Xiang

  adv40958

• Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant

  Andrea Diociaiuti, Emanuele Bellacchio, Claudia Cesario, Sabrina Rossi, Giovanna Zambruno, May El Hachem

  adv44095

• Symmetrical White Transparent Papules: A Quiz

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

  adv00720

• Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity

  Ana Paula do Carmo, Amanda R Battle, Nyla T. Melo Lobao Fragnan, Carlos A.S. Machado, Rosemeire N. Constantino-Silva, Sarah E. Henrickson, Anete S. Grumach

  adv41318

• 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

• The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

  Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen

  adv41100

• The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

  Helene Dufresne, Oriane Maincent, Charles Taieb, Christine Bodemer, Smail Hadj-Rabia

  adv5203

• 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

• Unmet Needs in Darier’s Disease from a Patient’s Perspective: Lessons Learnt from the German Registry

  Danielle Rogner, Laura Heimerl, Tilo Biedermann, Elke Sattler, Alexander Zink

  adv19663

• Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

  Laura Trefzer, Maria E. Hess, Lena Scholten, Kristin Technau-Hafsi, Frank Meiss, Melanie Boerries, Cristina Has, David Rafei-Shamsabadi

  adv4870

• 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

• Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings

  Tubanur Çetinarslan, Abdullah Kutay Masat, Aylin Türel Ermertcan, Regina Fölster Holst

  adv40270