This case study documented that a 67-year-old woman with Netherton syndrome experienced significant improvements in skin inflammation, pruritus, and hair growth after treatment with dupilumab, addressing symptoms of the syndrome and showing promising results for resolving "bamboo" hair.
3 citations
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November 1977 in “JAMA” This report highlights a 7-year-old girl misdiagnosed with pediculosis capitis, emphasizing the potential severe psychological or physiological consequences of confusing hair casts with nits.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
7 citations
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September 2011 in “International Journal of Dermatology” This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.
5 citations
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February 1977 in “Archives of Dermatology” This study reports that 14 of 19 patients with erythema nodosum leprosum had C3 deposits in vessel walls when examined using direct immunofluorescence.
3 citations
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January 2020 in “Acta Dermato Venereologica” This clinical case report presents photographs of a patient with Netherton syndrome, highlighting severe inflammatory vegetative lesions on the pubic area and umbilicus.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
17 citations
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August 1979 in “Journal of The American Academy of Dermatology” This study found that a histochemical stain using 4-dimethyl-aminocinnamaldehyde effectively distinguishes between plucked anagen and telogen hairs by causing the root ends of anagen hairs to develop a red color.
1 citations
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August 2025 in “Clinica Chimica Acta”
December 2024 in “Nutrients” In this review, skin changes like hair loss and brittle nails linked to nutritional deficiencies common in eating disorders are examined as critical diagnostic tools, highlighting the need for integrated care involving dermatologists, psychiatrists, and nutritionists for effective management.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
In this case report, a 67-year-old woman with Netherton syndrome experienced significant improvement in skin inflammation, pruritus, and hair growth after treatment with dupilumab, suggesting potential benefits for addressing both cutaneous and hair manifestations of the condition.
2 citations
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July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
December 2023 in “The Sri Lanka Journal of Dermatology” In this case report, a 12-year-old girl was diagnosed with alopecia as part of the rare ALX4-related frontonasal dysplasia sequence, highlighting the condition's uniqueness in pediatric dermatology.
1 citations
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February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
3 citations
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September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
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.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” This study found that NNAT is localized in both undifferentiated and differentiated cells across various rat tissues and has cell-specific intracellular localization, suggesting distinct functional roles.
January 1997 in “Journal of agricultural medicine and community health” This study found that scalp hair from individuals with non-insulin dependent diabetes mellitus had significantly different contents of zinc, copper, lead, cadmium, and aluminum compared to controls.
June 2024 in “British Journal of Dermatology” This report detailed the British Hair and Nail Society's national grand round, which aids in diagnosing and treating complex hair disorders, showcasing rare diagnoses and suggesting novel therapies.
1 citations
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April 2001 in “Biological Rhythm Research” This study suggests that D2O increases hair length in nude mice by extending the hair cycle duration, particularly the hair-existing phase, which is associated with increased mast cell density.
44 citations
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May 1980 in “Archives of Dermatology” This case study discusses a patient with persistent 20-nail dystrophy following alopecia areata, suggesting that "20-nail dystrophy" describes a condition with multiple potential causes.
November 2018 in “The European research journal” In this study, researchers found that patients with alopecia areata who had nail involvement or a history of autoimmune disease showed significantly higher red cell distribution width levels.
38 citations
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June 2005 in “International Journal of Dermatology” This case report describes a 28-year-old man with widespread pigmented basal cell carcinomas and recurrent infections that were challenging to control, associated with nevus comedonicus and a rudimentary toe.
April 2016 in “Journal of Investigative Dermatology” The authors concluded that Wnt ligands produced by hair-inducing dermal papilla cells have crucial roles in coordinating postnatal hair growth by interacting with both epithelial and mesenchymal compartments.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
15 citations
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October 1976 in “Biochemical Journal” This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
25 citations
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January 2019 in “British Journal of Dermatology” Low oxygen levels can make hair-growing cells better at growing hair through a process involving reactive oxygen species.