12 citations
,
September 2000 in “Journal of the European Academy of Dermatology and Venereology” This study found that balneophototherapy improved skin lesions in a 13-year-old with severe ichthyosis linearis circumflexa, but regular treatment is likely necessary to maintain remission.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
9 citations
,
December 2015 in “Journal of Dermatological Case Reports” A 12-year-old with ichthyosis linearis circumflexa showed significant improvement after 30 sessions of narrowband UVB phototherapy, as reported in this case study.
7 citations
,
July 2014 in “BMJ case reports” This article reviews the rare skin disorder ichthyosis with confetti, highlighting the potential for future therapies using revertant stem cells, and reports no new clinical results.
7 citations
,
January 2013 in “Indian dermatology online journal” This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.
6 citations
,
June 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that a hydrogel containing icariin enhanced wound healing and hair-follicle regeneration in vivo by promoting M2 macrophage polarization and modulating the BMP pathway, with treated skin defects showing improved recovery and new hair follicle development compared to untreated defects.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
6 citations
,
February 1985 in “Archives of Dermatology” This report describes a case where a 23-year-old woman with juvenile rheumatoid arthritis developed generalized ichthyosiform eruption due to sarcoidosis after long-term use of systemic corticosteroids.
5 citations
,
July 2024 in “Journal of Microbiology and Biotechnology” This study investigated autophagy activator ICP5249 and found it promotes hair growth by enhancing cell proliferation and autophagy-related markers in human dermal papilla cells and hair follicles, with AMPKα playing a regulatory role, suggesting its potential as a hair growth ingredient.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
4 citations
,
July 2024 in “Indian Dermatology Online Journal” This study developed and finalized standard treatment workflows for thirteen common skin diseases, such as acne, eczema, and psoriasis, to optimize management across primary, secondary, and tertiary care centers in the country, with resources available both online and in physical formats.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
3 citations
,
May 2017 in “BMJ Case Reports” This case report details a 15-year-old boy who developed iatrogenic Cushing’s disease with severe complications after prolonged treatment by an untrained practitioner for persistent erythroderma.
3 citations
,
January 2015 in “Indian journal of paediatric dermatology” This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.
2 citations
,
August 2024 in “Preprints.org” This case study reports a potential link between ichthyosis and scalp paresthesia, noting that fluocinolone, a synthetic corticosteroid, was effective in reducing paresthesia episodes, suggesting its possible role in the symptomatic treatment of this condition.
2 citations
,
February 2023 in “BMC women's health” In this study, oral contraceptive use in women with PCOS increased the expression of certain inflammatory gene markers, which were positively associated with metabolic abnormalities.
2 citations
,
March 2011 in “International Journal of Dermatology” This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.
2 citations
,
July 2004 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This study found that multiple treatments combining NIR laser phototherapy with ICG significantly reduced inflammation and improved skin condition in acne without side effects.
2 citations
,
January 1989 This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.
2 citations
,
April 1970 in “Archives of Dermatology” This report discusses a case of ichthyosis serpentina, suggesting it as a variant of ichthyosis associated with bamboo hair, although atopy may not be a necessary component.
1 citations
,
June 2017 in “Veterinary dermatology” This case report describes a presumptive case of ichthyosis fetalis in a cross-bred lamb and highlights the need for this rare condition in sheep to be considered by veterinarians in the differential diagnosis of dermatopathies.
1 citations
,
October 2025 in “Journal of Dermatological Treatment” This case study reported that Dupilumab treatment improved eczema, itch, and hair condition in a girl with Netherton Syndrome, as shown by over 40% improvement in various dermatological scores; however, significant flares of ichthyosis linearis circumflexa persisted.
1 citations
,
May 2025 in “Cytotechnology” This study observed that Icariside II, an extract from Epimedium brevicornu Maxim, can inhibit the growth of gastric cancer in cell lines and mouse models by promoting apoptosis and suppressing the Wnt/β-catenin signaling pathway, with minimal toxicity to normal gastric cells.
1 citations
,
January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
1 citations
,
November 2022 in “International journal of trichology” This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.
1 citations
,
January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
1 citations
,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews the presentations from the First Symposium of Ichthyosis Experts in Spain, held to address the challenges in organizing care for ichthyosis patients, and reports no new clinical results.