June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
June 2006 in “Experimental dermatology” This paper reviews potential animal models for studying hidradenitis suppurativa, specifically suggesting that certain mouse models with genetic mutations might be useful, but it reports no new experimental findings.
This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.
In this study, pruritus was the most frequent skin disorder observed in hemodialyzed patients, particularly among those undergoing long-term dialysis.
April 1963 in “Archives of Dermatology” This case study details the progression of a woman's skin conditions, initially diagnosed as acanthosis nigricans and later as mycosis fungoides, with changes in lesion characteristics and distribution over time.
February 2026 in “HCA Healthcare Journal of Medicine” This review discusses identifying keratosis pilaris, its common mimics, and its associated skin diseases across different skin tones but reports no new results.
December 2025 in “Clinical Case Reports” In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.
October 2025 in “Indian Journal of Paediatric Dermatology” In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.
May 2025 in “International Journal of Trichology” This case report highlights a 7-year-old boy with suspected Netherton syndrome who presented with itchy lesions, hair abnormalities, and elevated immunoglobulin E levels. The authors report complete resolution of symptoms with oral Acitretin after failed methotrexate treatment.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
March 2023 in “International journal of integrated medical research” This article discusses keratosis pilaris, a common skin condition often considered a normal variant, and reviews its associations, progression, and available treatments without reporting new clinical results.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
July 2024 in “Journal of Investigative Dermatology” Hair follicles are crucial for maintaining skin barrier function.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.
April 2017 in “IOSR journal of dental and medical sciences” This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
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.
11 citations
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January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
5 citations
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January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
4 citations
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March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
4 citations
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April 1978 in “PubMed” This case study describes a six-month-old boy diagnosed with Netherton syndrome, featuring ichthyosiform erythroderma and alopecia, possibly linked to aminoaciduria.
1 citations
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January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
October 2022 in “Chinese Journal of Dermatology” This study observed that skin dryness does not seem to indicate impaired epidermal barrier function, as there was no negative correlation between stratum corneum water content and transepidermal water loss.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
175 citations
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December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
66 citations
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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.