Squamous cell carcinoma in rare case of Huriez Syndrome: The role of distant flaps

Authors: A. Patrignani, D. Ribuffo, A Greco, F. Lo Torto, A. Pagnotta

Source: JPRAS Open, Vol 43, Iss , Pp 180-186 (2025)

Subject Terms: Scc in huriez syndrome, Genodermatosis, Radial flap, Therapeutic role of the flaps, Hand surgery, Foot surgery, Surgery, RD1-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352587824001815; https://doaj.org/toc/2352-5878

Access URL: https://doaj.org/article/43ce89c040134560b345bc8b2253fcc6

A patient with extensive Darier disease efficiently treated and maintained on doxycycline monotherapy

Authors: Avik Mondal, MD, Peeyush Kiran Tripathy, MBBS, Tarun Sharma, MBBS

Source: JAAD Case Reports, Vol 58, Iss , Pp 5-7 (2025)

Subject Terms: Darier disease, doxycycline, dyskeratosis, genodermatosis, treatment, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512625000220; https://doaj.org/toc/2352-5126

Access URL: https://doaj.org/article/49667b9914634eae8aa35a682b1558bf

Successful Treatment of Linear Psoriasis With the IL-17a-Antagonist Ixekizumab: A Case Report

Authors: Christov S, Ohm F, Augustin M, Wagner JN

Source: Psoriasis: Targets and Therapy, Vol Volume 15, Pp 23-28 (2025)

Subject Terms: psoriasis, linear psoriasis, biologics, genodermatosis, ilven, il-17a-antagonist, ixekizumab., Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.dovepress.com/successful-treatment-of-linear-psoriasis-with-the-il-17a-antagonist-ix-peer-reviewed-fulltext-article-PTT; https://doaj.org/toc/2230-326X

Access URL: https://doaj.org/article/33997141888c47c7849445500beae172

When care hurts: parents’ experiences of caring for a child with epidermolysis bullosa

Authors: Elisabeth Daae, Kristin Billaud Feragen, Terje Naerland, Charlotte von der Lippe

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: Epidermolysis Bullosa, Genodermatosis, Qualitative, Parents, skin care, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/03df8a9144ce40149de9af466747f558

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Authors: Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker

Source: Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)

Subject Terms: pseudoxanthoma elasticum, gonadal mosaicism, systematic literature review, genodermatosis, ABCC6, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/9/597; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

Access URL: https://doaj.org/article/479cde1bfdb14a16b0132e744b3865e7

Recalcitrant Hailey-Hailey disease treated with isotretinoin: A family case series

Authors: Mahesh Mathur, MD, DCP, Sandhya Regmi, MBBS, Srijana Maharjan, MD, Supriya Paudel, MBBS, Nabita Bhattarai, MBBS, Sambidha Karki, MBBS

Source: JAAD International, Vol 18, Iss , Pp 156-157 (2025)

Subject Terms: ATP2C1 mutation, familial benign chronic pemphigus, genodermatosis, Hailey-Hailey disease, isotretinoin, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666328724001792; https://doaj.org/toc/2666-3287

Access URL: https://doaj.org/article/b76bb2ecb6bf4c608d28251ff61a6f66

Dyschromatosis symmetrica hereditaria

Authors: K. Geetha

Source: Journal of Clinical and Scientific Research, Vol 13, Iss Suppl 1, Pp S15-S17 (2024)

Subject Terms: acropigmentation of dohi, dyschromatosis symmetrica hereditaria, pigmentary genodermatosis, Medicine

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/jcsr.jcsr_36_23; https://doaj.org/toc/2277-5706; https://doaj.org/toc/2277-8357

Access URL: https://doaj.org/article/6ec14af32fac4891a620588bb684a108

Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis

Authors: Faris A. Alhomida, MD, Raghad Alharthi, MD, Ahmed Almutairi, MD, Dalal A. AlDosari, MD, Maee Barakeh, MD, Ahmed Dilli, MD, Maha Barakeh, MD, Asem Shadid, MD, Alhanouf Bin Dakhil, MD, Lamia AlAkrash, MD

Source: JAAD Case Reports, Vol 51, Iss , Pp 45-47 (2024)

Subject Terms: ceramidase deficiency, diagnosis, Farber’s disease, genetic syndrome, genetic testing, genodermatosis, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S235251262400167X; https://doaj.org/toc/2352-5126

Access URL: https://doaj.org/article/6f7ca93927794f0fb3a0dae952692b61

Hypermobility in patients with epidermolysis bullosa—A retrospective observational study from a national referral center

Authors: Maria L. Bageta, Michelle Wood, Pablo Lopez Balboa, Gabriela Petrof, Anna E. Martinez

Source: JEADV Clinical Practice, Vol 3, Iss 2, Pp 611-615 (2024)

Subject Terms: epidermolysis bullosa, genodermatosis, Dermatology, RL1-803, Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: https://doaj.org/toc/2768-6566

Access URL: https://doaj.org/article/02899f2c01a84bcaad8bbdd7d6004800

Pseudodidymosis aplasticosebacea: Binary phenomenon of congenital aplasia cutis congenita and nevus sebaceus

Authors: Retno Danarti, MD, Rudolf Happle, MD, Ani Rifko, MD, Agnes Rosarina Prita Sari, MSc, WenChieh Chen, MD

Source: JAAD Case Reports, Vol 48, Iss , Pp 94-97 (2024)

Subject Terms: aplasia cutis congenita, binary genodermatosis, nevus sebaceus, pseudodidymosis aplasticosebacea, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512624001383; https://doaj.org/toc/2352-5126

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ICTIOSIS: Actualización clínica y molecular. Parte 2: ictiosis sindrómicas. Abordaje diagnóstico y terapéutico de las ictiosis

Alternate Title: ICHTHYOSIS: Clinical and molecular update. Part 2: Syndromic ichthyosis. Diagnostic and therapeutic approach of ichthyosis (English)

Authors: Gutiérrez-Cerrajero, C. ^{a, b}, González-Sarmiento, R. ^{a, b}, Hernández-Martín, Á. ^{c, ⁎}

Source: In Actas dermosifiliograficas September 2024

ICTIOSIS: Actualización clínica y molecular. Parte 1: introducción e ictiosis no sindrómicas

Alternate Title: ICHTHYOSIS: Clinical and molecular update. Part 1: Introduction and non-syndromic ichthyoses (English)

Authors: Gutiérrez-Cerrajero, C. ^{a, b}, González-Sarmiento, R. ^{a, b}, Hernández-Martín, Á. ^{c, ⁎}

Source: In Actas dermosifiliograficas September 2024

Incontinencia pigmenti. Presentación de caso.

Authors: Elayne Esther Santana Hernández

Source: Acta Médica del Centro, Vol 18, Iss 3, Pp e1996-e1996 (2024)

Subject Terms: genodermatosis, incontinencia pigmenti, síndrome bloch-sulzberger., Medicine

File Description: electronic resource

Relation: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1996; https://doaj.org/toc/2709-7927

Access URL: https://doaj.org/article/284c270566bd4a968f3cc4038357ce01

Novel TRPV3 loss-of-function mutation in Olmsted syndrome with attenuated phenotype

Authors: Travis Frantz, MD, David Kirwin, MD, Angela Crotty, MD, Willis Lyford, MD

Source: JAAD Case Reports, Vol 50, Iss , Pp 4-5 (2024)

Subject Terms: genodermatosis, Olmsted syndrome, palmoplantar keratoderma, transient receptor potential vanilloid-3, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512624001917; https://doaj.org/toc/2352-5126

Access URL: https://doaj.org/article/0c6d502c600446c9856f5a1939db2d03

Severe Hypernatremia as Presentation of Netherton Syndrome

Authors: A. Di Nora, M.C. Consentino, G. Messina, T. Timpanaro, P. Smilari, P. Pavone

Source: Global Medical Genetics, Vol 10, Iss 04, Pp 335-338 (2023)

Subject Terms: hypernatremia, genodermatosis, Trichorrhexis invaginata, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2699-9404

Access URL: https://doaj.org/article/67bb2d2994f04682946f8405c96cf946

Refractory Hailey–Hailey disease cleared with upadacitinib

Authors: Lauren Murphy, BS, Peter Ch’en, BS, Eingun James Song, MD

Source: JAAD Case Reports, Vol 41, Iss , Pp 64-67 (2023)

Subject Terms: genodermatosis, Hailey–Hailey disease, JAK inhibitor, upadacitinib, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512623003478; https://doaj.org/toc/2352-5126

Access URL: https://doaj.org/article/f77c1b8498b9431ebd999c3b72265129

Acral peeling skin syndrome

Authors: Daria Gierach, Łukasz Kępczyński

Source: Przegląd Dermatologiczny, Vol 110, Iss 4, Pp 567-573 (2023)

Subject Terms: genodermatosis, acral peeling skin syndrome, tgm5 mutation, exfoliation, Medicine, Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.termedia.pl/Acral-peeling-skin-syndrome,56,51450,1,1.html; https://doaj.org/toc/0033-2526; https://doaj.org/toc/2084-9893

Access URL: https://doaj.org/article/22805b47b37f4a82a5e5716c0622d25f

A cross-sectional study on the prevalence and determinants of various neonatal dermatoses

Authors: Sabiha Quazi, Sanjiv Choudhary, Adarshlata Singh, Bhushan Madke, Khalid Khan, Sudhir Singh

Source: Journal of Family Medicine and Primary Care, Vol 12, Iss 11, Pp 2942-2949 (2023)

Subject Terms: dermatosis, desquamation, neonatal genodermatosis, skin lesion, skin manifestations, Medicine

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/jfmpc.jfmpc_513_23; https://doaj.org/toc/2249-4863; https://doaj.org/toc/2278-7135

Access URL: https://doaj.org/article/51fcc3cb82154051907f171a05becbb9

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

Authors: Yulia Y. Kotalevskaya, Vadim A. Stepanov

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: epidermolysis bullosa simplex, syndromic epidermolysis bullosa, rare phenotype, genodermatosis, KLHL24 gene, genotype–phenotype correlations, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1418239/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/60b260492c9d4a829e388f424688b6fe

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

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

Source: Acta Dermato-Venereologica, Vol 104 (2024)

Subject Terms: Darier’s disease, genodermatosis, orphan disease, disease burden, registry, Dermatology, RL1-803

File Description: electronic resource

Relation: https://medicaljournalssweden.se/actadv/article/view/19663; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

Access URL: https://doaj.org/article/d4411358249746bb825525a59d2633f4