Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

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Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon by Bassel Hamam, Sarah Saleh, Miled Yaacoub, Houssein Chebbo, Sarah Jalloul, Karam Karam, Rima Houmani

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Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report by Şule Çalışkan Kamış, Begül Yağcı

“…Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. …”
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Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review by Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman

“…Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. …”
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Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

Subjects: “…congenital ichthyosis…”
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Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype by Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia

“… Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance. …”
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Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient by Ryo Fukaura, Kana Tanahashi, Michiya Omi, Takuya Takeichi, Masashi Akiyama

Subjects: “…autosomal recessive congenital ichthyosis…”
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Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

“…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. …”
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Trichoscopy in Unveiling the Triad of Netherton Syndrome by H Bangaru, D Ashwini

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Atypical Presentation of Sjögren-Larsson Syndrome by D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, A. Evangeliou

“…Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). …”
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Expedient Treatment of a Collodion Baby by Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai

“…Eventually, these children develop signs of one of several types of ichthyosis, which gives the skin the appearance of “fish scales.” …”
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The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome by Min Xu, Yujie Shi, Li Lin, Liang Wang, Xianzhong Zhu, Jinglin Xiong, Jiawen Yin, Qing Qi, Wenlin Yang

“…Furthermore, variants in domain regions were significantly correlated with the presence of ichthyosis linearis circumflexa (P < 0.01). Patients with homozygous fatal variants (c.153delT, c.1431-12G>A, c.1111C>T, c. 1887 + 1G>A, and c. 995delT) had a higher likelihood of mortality during infancy (P < 0.001).ConclusionOur study provides valuable insights into the genotype-phenotype correlation in Netherton syndrome, enhancing our understanding of the disease and potentially informing the development of future therapeutic approaches.…”
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Characterization of adult T-cell leukemia/lymphoma patients with specific skin lesions in a tertiary dermatological service in Brazil by Mariana Valente, José Antonio Sanches, Youko Nukui, Jade Cury-Martins, Bruno Castro Souza, Juliana Pereira, Denis Miyashiro

“…Regarding skin lesions, 18 (40.9%) had plaques; 15 (34.1%) nodules/tumors; 11 (25.0%) papules; 10 (22.7%) erythroderma; seven (15.9%) patches; two (4.5%) ichthyosis; one (2.3%) purpuric lesions. Epidermotropism/exocytosis of lymphocytes was observed in 25 patients (62.5%), and Pautrier microabscesses in three (7.3%). …”
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