3 citations
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September 1998 in “International Journal of Dermatology” In this case study, long-term treatment with acitretin significantly improved chronic skin conditions like erythematosquamous plaques and follicular hyperkeratoses in a patient, but stopping the treatment led to severe worsening of symptoms.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
6 citations
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October 1998 in “PubMed” This case study reports a new variant of chronic dermatophytosis with giant cutaneous horns, suggesting a possible genetic link and highlighting successful treatment with antifungal medications.
5 citations
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May 2017 in “Journal of dermatological science” This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.
2 citations
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August 2013 in “British Journal of Dermatology” This case report observed a dramatic improvement in a 15-year-old girl's pachyonychia congenita symptoms during chemotherapy for Ewing sarcoma, suggesting chemotherapy's potential role in managing hyperkeratotic conditions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.
12 citations
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September 2012 in “Pediatric Dermatology” This case report describes a 5-year-old boy with extensive epidermal nevus who experienced marked improvement using a topical calcipotriol/betamethasone dipropionate combination ointment.
7 citations
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February 2002 in “Veterinary Dermatology” This study found that intracorneal vacuoles were common in various parakeratotic skin diseases in dogs, but large vacuoles were exclusively observed in congenital follicular parakeratosis.
2 citations
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July 2018 in “Our Dermatology Online” This case report documents the first known instance of nevoid hyperkeratosis of the nipple and areola with unilateral presentation in a Saudi female, diagnosed through clinical evaluation and biopsy.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
In this case study, the researchers observed that a dermocosmetic formulation with encapsulated retinol led to complete regression of a chronic actinic keratosis lesion on the scalp, suggesting it may be a promising treatment approach.
January 2025 in “ARC Journal of Clinical Case Reports” This case report suggests that using encapsulated retinol in polylysine may effectively treat actinic keratosis with minimal irritation, potentially providing a safer alternative for frequent use.
January 2024 in “The Indian Veterinary Journal” In this case study involving a two-month-old crossbred kid, severe skin conditions characterized by alopecia and pruritic lesions were linked to Malassezia yeast and bacteria, and successful treatment was observed with ketoconazole and supportive care.
9 citations
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July 2002 in “Journal of the European Academy of Dermatology and Venereology” This article discusses multiple minute digitate hyperkeratosis in a dermatological context and reports no new clinical findings; the authors focus on a descriptive review.
October 2025 in “Indian Journal of Paediatric Dermatology” This case study documents a boy with zinc-responsive acral hyperkeratosis improving significantly after zinc supplementation, suggesting it could result from inadequately treated acrodermatitis enteropathica.
25 citations
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January 2004 in “The International Journal of Developmental Biology” This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.
December 2025 in “Journal of Clinical Medicine” In this case study, the researchers reported that surgical debridement combined with targeted dermatological and antimicrobial therapy effectively managed chronic lower-limb wounds in a patient with keratitis-ichthyosis-deafness syndrome, underscoring the importance of a multidisciplinary approach in treating this rare condition.
188 citations
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October 2014 in “Thyroid” This study found that dabrafenib was well tolerated and led to durable responses in patients with BRAF-mutant differentiated thyroid carcinoma, with a median progression-free survival of 11.3 months.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
147 citations
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April 1997 in “Oncogene” This study found that transgenic mice expressing IGF-1 in their skin showed significant skin changes, early hair follicle generation, and a higher propensity to develop tumors after chemical promotion, suggesting IGF-1's role in skin carcinogenesis.
108 citations
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July 2002 in “Molecular and cellular biology” This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
81 citations
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February 2014 in “EMBO molecular medicine” This study found that prolonged Nrf2 activation in mouse keratinocytes led to enlarged sebaceous glands, hair loss, and cysts, suggesting a role for Nrf2 in conditions like MADISH.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
78 citations
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April 1994 in “Archives of dermatology” This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.
74 citations
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June 2018 in “Cell death and disease” In this study, researchers found that depleting mtDNA in mice caused skin wrinkles and hair loss but restoring mitochondrial function reversed these effects, highlighting mtDNA's significant role in skin and hair health.
74 citations
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March 1963 in “Archives of Dermatology” This article reviews historical reports of skin changes, such as pseudoacanthosis nigricans, associated with cholesterol-lowering drugs like triparanol and nicotinic acid, but presents no new clinical findings.
73 citations
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December 2010 in “Current opinion in infectious diseases/Current opinion in infectious diseases, with evaluated MEDLINE” This review discusses various theories of the causes and management strategies for hidradenitis suppurativa, reporting no new experimental results, with a focus on the immune basis of the disease.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.