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• 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

  373

  PDF: 280

  HTML: 19

• 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

  411

  PDF: 250

  HTML: 17
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  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

  1484

  PDF: 951

  HTML: 1050

• 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

  438

  PDF: 281

  HTML: 10
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  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

  1792

  PDF: 563

  HTML: 138

• 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

  838

  PDF: 450

  HTML: 15

• 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

  610

  PDF: 508

  HTML: 170
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  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

  932

  PDF: 535

  HTML: 298
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  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

  1498

  PDF: 708

  HTML: 535

• 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

  967

  PDF: 568

  HTML: 27
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  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

  785

  PDF: 496

  HTML: 625

• 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

  184

  PDF: 181

• 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

  753

  PDF: 402

  HTML: 39
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  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

  1118

  PDF: 510

• 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

  393

  PDF: 320

  HTML: 17