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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

  528

  PDF: 365

  HTML: 32

• 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

  979

  PDF: 327

  HTML: 44
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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

  1658

  PDF: 978

  HTML: 1071

• Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis

  Yuzhi Ma, Jia Zhang, Zhirong Yao

  03-11-2025

  https://doi.org/10.4081/dr.2025.10343

  444

  PDF: 318

  SUPPLEMENTARY MATERIAL: 94

  HTML: 1

• 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

  639

  PDF: 331

  HTML: 45
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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

  1881

  PDF: 594

  HTML: 165

• 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

  970

  PDF: 485

  HTML: 24

• 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

  669

  PDF: 558

  HTML: 238

• True leukonychia: case reports and review of the literature

  Azhar Ahmed, Mohammed Alahmadi, Ascia Almowaled, Hind Almohanna

  24-09-2025

  https://doi.org/10.4081/dr.2025.10405

  434

  PDF: 426

  SUPPLEMENTARY MATERIAL: 25

  HTML: 7
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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

  1102

  PDF: 599

  HTML: 357

• 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

  798

  PDF: 497

  HTML: 52

• 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

  349

  PDF: 332

• 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

  655

  PDF: 385

  HTML: 35

• 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

  1032

  PDF: 609

  HTML: 38
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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

  1162

  PDF: 548
• 

  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

  1600

  PDF: 732

  HTML: 548
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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

  851

  PDF: 530

  HTML: 661

• The prevalence of epidermal skin malignancies in people living with oculocutaneous albinism attending the Universitas Academic Hospital, Bloemfontein, South Africa

  Lehlohonolo Makhakhe, Brigitte-Jane Oliver, Maserame Motloung, Zoleka Ngaka, Zandile Motaung, Mbali Chabeli, Zinhle Ncwane, Ogechi Mokotedi

  04-12-2025

  https://doi.org/10.4081/dr.2025.10038

  581

  PDF: 368

  HTML: 7