34 citations
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June 1992 in “Journal of Cutaneous Pathology” In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.
31 citations
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May 2013 in “Clinical Cosmetic and Investigational Dermatology” This review discusses dermocosmetic care for managing DM-related dermatoses, reporting improved skin conditions and quality of life in patients, but highlights limited clinical evidence for these products.
16 citations
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April 2000 in “Journal of Investigative Dermatology” The study reports that the AVET system showed higher efficiency in transfecting cultured human keratinocytes compared to SuperFect and PrimeFector, with AVET reaching levels of enzyme activity similar to normal cells in keratinocytes from lamellar ichthyosis patients.
9 citations
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June 2024 in “Cell Reports” This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.
7 citations
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January 1986 in “Prenatal Diagnosis” This study demonstrated that biochemical analysis of proteins from fetal skin biopsies is feasible, potentially enhancing prenatal diagnostic capabilities for protein-related disorders.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
3 citations
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September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
2 citations
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January 2022 in “JAAD Case Reports” This case report describes a 69-year-old woman who developed drug-induced acquired ichthyosis related to ponatinib therapy, which improved upon stopping the medication.
1 citations
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July 2021 in “IntechOpen eBooks” This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
November 2021 in “Clinical, cosmetic and investigational dermatology” This case report details an 80-year-old woman with circle hair potentially linked to acquired ichthyosis from multiple myeloma, where a prescribed topical treatment led to clinical improvement.
October 2018 in “Deep Blue (University of Michigan)” This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
January 2016 in “SpringerBriefs in bioengineering” This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
28 citations
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April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
451 citations
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March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
44 citations
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March 2019 in “Experimental Dermatology” This study analyzed the cornified envelope of epidermal proteins, finding keratins dominate, which may help explain the minimal impact of deleting genes for single envelope components in congenital ichthyosis.
22 citations
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January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
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.
February 2025 in “Journal of Paediatrics and Child Health” In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.
21 citations
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September 2013 in “Pediatric Dermatology” This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.
November 2025 in “Вопросы современной педиатрии” In this case report, the researchers observed that combining growth hormone therapy with the biologic drug dupilumab effectively improved growth and health outcomes in a patient with Netherton syndrome and comorbid hypopituitarism, suggesting a multidisciplinary approach may be beneficial for managing such cases.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
9 citations
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July 2016 in “The Journal of Dermatology” This letter to the editor discusses an observed case of hair repigmentation linked with etretinate therapy but reports no new research findings.
7 citations
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June 1994 in “International journal of biochemistry/International Journal of Biochemistry” This review explores various topics related to skin diseases, hormones, receptors, growth factors, and therapeutic approaches, but it provides no new research findings.