2 citations
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November 2024 in “Acta Dermato Venereologica” In this case report, researchers describe an adult patient with CHILD syndrome whose skin lesions were successfully managed with topical ketoconazole, marking the first known instance of using this treatment without recurrence during follow-up.
34 citations
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October 2011 in “Journal of the American Academy of Dermatology” This review covers the diverse cutaneous and systemic presentations of sarcoidosis in patients with skin of color, emphasizing the importance of early recognition to improve outcomes despite a generally poorer prognosis compared to Caucasians.
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.
30 citations
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February 2015 in “Anais Brasileiros de Dermatologia” This case report describes a 4-year-old boy with Netherton syndrome, where trichoscopy importantly aided diagnosis and is recommended for all children with erythroderma.
2 citations
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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.
3 citations
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January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study reports that tofacitinib, a JAK inhibitor, may stabilize hair loss in patients with classic lichen planopilaris and frontal fibrosing alopecia, though hair regrowth was not robust.
September 2003 in “Current Paediatrics” This article outlines how pediatric hair problems present and how they can be assessed, without reporting new research results.
10 citations
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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.
147 citations
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January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
47 citations
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March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
18 citations
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June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
4 citations
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March 2006 in “Archives of Dermatology” This text is not a research abstract but website navigation and policy information; it provides no study results.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” This case report describes a 10-year-old girl with lamellar ichthyosis who showed marked improvement in scaling and skin stiffness after six weeks of treatment with emollient and supportive therapy.
1 citations
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January 2015 in “Journal of nutrition & health” This study suggests that fish oil, specifically its components EPA and DHA, play a beneficial role in promoting skin health by supporting epidermal growth and reducing proinflammatory cytokines.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
September 2025 in “OBM Genetics” This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.
This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.
November 2023 in “Frontiers in pharmacology” This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
March 1988 in “Archives of Dermatology” This abstract provides no research findings or scientific content; it appears to be a website cookie policy and terms of use statement.
9 citations
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May 2016 in “Veterinary dermatology” This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.
42 citations
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January 2007 in “Pediatric dermatology” This report describes an 11-year-old boy with Netherton syndrome who developed Cushing syndrome after using low-potency hydrocortisone ointment extensively, highlighting caution with long-term topical treatments in such conditions.
2 citations
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May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
11 citations
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October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.