Search

Search Results

• Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the DST gene: the first Italian case and literature review

  Andrea Diociaiuti, Ruggiero Davide Zingarelli, Dario Francesco D'Urso, Giovanna Zambruno, May El Hachem

  14-05-2025

  https://doi.org/10.4081/dr.2025.10206

  473

  PDF: 347

  HTML: 29

• Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

  Khalid Alwunais, Jamal Alqahtani, Abdullah Aljalfan, Hadeel Alotaibi

  29-05-2025

  https://doi.org/10.4081/dr.2025.10177

  760

  PDF: 316

  HTML: 35
• 

  Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family

  Khalid Mohammad al Aboud, Daifullah Al Aboud

  e13

  03-08-2011

  https://doi.org/10.4081/dr.2011.e13

  1546

  PDF: 973

  HTML: 1062

• Focal facial dermal dysplasia type IV: a case series

  Laura Gnesotto, Mario Cutrone, Giuseppe Ruggiero, Carla Morando, Anna Belloni Fortina, Annalisa Patrizi, Luigi Naldi, Andrea Sechi

  15-04-2025

  https://doi.org/10.4081/dr.2025.10199

  549

  PDF: 317

  HTML: 34
• 

  Autoinflammatory diseases: what is behind them and what is new?

  Michele Maalouly, Serena Saade, Mazen Kurban

  29-12-2022

  https://doi.org/10.4081/dr.2023.9625

  1856

  PDF: 588

  HTML: 157

• Discoid lupus erythematosus associated with chronic granulomatous disease

  Ana Carolina de Almeida Figueiredo, Ana Luísa Matos, Joana Calvão, José Carlos Cardoso

  13-09-2023

  https://doi.org/10.4081/dr.2023.9837

  911

  PDF: 476

  HTML: 21

• Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia

  Florine Le Lay, Marianna Deparis, Sylvie Fraitag, Anne Dompmartin

  11-04-2024

  https://doi.org/10.4081/dr.2024.9864

  644

  PDF: 548

  HTML: 212
• 

  Late-onset focal dermal elastosis: report of a case and review of the literature

  Fabrizio Fantini, Emanuele Dainese, Sebastiano Recalcati

  22-03-2022

  https://doi.org/10.4081/dr.2022.9337

  1017

  PDF: 567

  HTML: 347

• Papillon-Lefèvre syndrome with excellent response to risankizumab

  Latifah Alibrahim, Sarah Alrashid, Majed Aleissa

  25-02-2026

  https://doi.org/10.4081/dr.2026.10309

  299

  PDF: 295

• Urbach-Wiethe syndrome: report of two clinical cases

  Ilaria Demofonte, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini

  20-05-2025

  https://doi.org/10.4081/dr.2025.10230

  615

  PDF: 369

  HTML: 27

• Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency

  Elisa Marzola, Vincenzo Bettoli

  24-08-2023

  https://doi.org/10.4081/dr.2023.9717

  1011

  PDF: 595

  HTML: 33
• 

  Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: A case report

  Bernadya Yogatri Anjuwita Saputri, Iskandar Zulkarnain

  01-04-2019

  https://doi.org/10.4081/dr.2019.8082

  1144

  PDF: 538
• 

  Karl Gustaf Torsten Sjögren and the Sjögren-Larsson syndrome

  Khalid Al Aboud, Daifullah Al Aboud

  e34

  29-09-2011

  https://doi.org/10.4081/dr.2011.e34

  1555

  PDF: 726

  HTML: 545
• 

  Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease

  Fares A. Alkhayal, Sukina Al Haddad , Reem Medhat Bakraa , Abdulmalik Alqahtani

  09-08-2023

  https://doi.org/10.4081/dr.2023.9750

  835

  PDF: 526

  HTML: 649

• When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion

  Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi

  13-09-2023

  https://doi.org/10.4081/dr.2023.9784

  780

  PDF: 469

  HTML: 45