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.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
4 citations
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May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” This study reported dramatic improvements in five collodion baby patients with lamellar ichthyosis treated with oral retinoic acid, noting hair loss as the sole adverse effect, emphasizing the treatment's promising efficacy for physicians.
2 citations
,
December 2023 in “International journal of molecular sciences” This study reviews the complex keratinization process in the epidermis, detailing how various factors regulate keratinocyte differentiation and emphasizing the importance of understanding this process for the pathogenesis of skin disorders like ichthyoses and psoriasis.
1 citations
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
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.
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.
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.
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.
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.
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.
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.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
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.
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.
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."
114 citations
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May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
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.
74 citations
,
March 1963 in “Archives of Dermatology” This article reviews historical reports of skin changes, such as pseudoacanthosis nigricans, associated with cholesterol-lowering drugs like triparanol and nicotinic acid, but presents no new clinical findings.
58 citations
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November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
53 citations
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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.
46 citations
,
September 2010 in “Veterinary Dermatology” This retrospective study documented various skin diseases in alpacas, reporting bacterial infections as the most common, along with other conditions described for the first time.
41 citations
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December 2008 in “Pediatric Dermatology” This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.
34 citations
,
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.
32 citations
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March 1988 in “International Journal of Dermatology” This review discusses current concepts on the role of retinoids in keratinization and does not report new clinical results; the authors emphasize the complexity of retinoid effects on skin.
31 citations
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January 1981 in “Pharmacology & Therapeutics” In this study, 13-cis-5S*,8S*-epidioxy-5,8-dihydroretinoic acid was found to be significantly more cytotoxic to cancer cell lines than other retinoic acid analogs evaluated.
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.
16 citations
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October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.