12 citations
,
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.
63 citations
,
April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
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.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
85 citations
,
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.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
23 citations
,
February 2015 in “The American journal of pathology” This study found that the absence of sebaceous glands may be an early factor in the development of keratosis pilaris, leading to hair shaft and skin barrier abnormalities, independent of filaggrin mutations.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
16 citations
,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
12 citations
,
January 2000 in “Journal of cutaneous medicine and surgery” This case study suggests that overgrowth of microorganisms with hyperkeratosis may contribute to the induction of lichen planopilaris by disrupting the immune privilege of hair follicles.
1 citations
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September 2016 in “Journal of Dermatological Science” In this study using tamoxifen-inducible claudin-1 knockout mice, researchers observed that tight junction barrier leakage induced stratum corneum barrier defects and skin inflammation, suggesting a possible cycle of barrier damage and inflammation in atopic dermatitis.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” In this study, a case of a 20-year-old woman revealed ectopic acanthosis nigricans at a post-syndactyly-release surgical site, suggesting this rare condition could result from epidermal–dermal mismatch and altered growth factor signaling in grafted skin, without indicating any metabolic or malignancy concerns.
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.
April 2018 in “Journal of Investigative Dermatology” This study found that inactivating CerS4 in mouse epidermis disrupts lipid homeostasis and is crucial for maintaining, but not forming, the skin barrier.
August 2015 in “Free Radical Biology and Medicine” This study found that Nrf2 activation protected keratinocytes from UVB damage but also caused thickening, inflammation, and cysts, limiting its therapeutic potential for skin protection.
3 citations
,
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.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
15 citations
,
February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
1 citations
,
April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” In this study, symmetrical acrokeratoderma was observed to frequently occur alongside ichthyosis vulgaris, with no specific therapy available for the condition.
9 citations
,
September 2009 in “PubMed” This case report presents the first evidence of significant antigen presenting cells around hair follicles in a patient with alopecia due to active systemic lupus erythematosus.
7 citations
,
February 2005 in “Veterinary Dermatology” This study found that horses with inflammatory skin diseases had a higher prevalence of surface cocci and fungal poroconidia compared to those with healthy skin.
January 2016 in “Lithuanian University of Health Sciences” This study in a Lithuanian veterinary clinic observed diverse histomorphological skin changes in alopecic dogs caused by various rare diseases, including hyperkeratinization and pigmentation disorders.
112 citations
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January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
24 citations
,
September 2007 in “Veterinary Dermatology” This report documented the first known case of Malassezia slooffiae-associated dermatitis identified in a goat through diagnostic work-up, including histology and DNA sequencing.
17 citations
,
February 2001 in “Journal of the American Academy of Dermatology” This case report suggests that lithium, either alone or with haloperidol, may induce skin changes resembling follicular mycosis fungoides.