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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

  1386

  PDF: 889

  HTML: 1034
• 

  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

  1570

  PDF: 458

  HTML: 117

• 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

  686

  PDF: 367

  HTML: 9

• Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in DST gene: 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

  81

  PDF: 52

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

  Khalid Alwunais, Jamal Alqahtani, Abdullah Ali N Aljalfan, Hadeel Alotaibi

  29-05-2025

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

  47

  PDF: 29

• 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

  480

  PDF: 406

  HTML: 39
• 

  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

  775

  PDF: 408

  HTML: 246
• 

  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

  649

  PDF: 379

  HTML: 498
• 

  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

  1319

  PDF: 637

  HTML: 519
• 

  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

  1017

  PDF: 424

• 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

  615

  PDF: 314

  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

  800

  PDF: 449

  HTML: 14