10 citations
,
July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
7 citations
,
July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
1 citations
,
October 2023 in “Journal of the Pakistan Medical Association” This source describes a case of a 12-year-old male diagnosed with folliculotropic mycosis fungoides, presenting with an asymptomatic, erythematous plaque. Histology and immunohistochemistry confirmed FMF, which is typically rare in children and marked by follicular infiltration by CD4+ lymphocytes.
January 1988 in “Inpharma (Balgowlah)” New retinoids are effective for various skin conditions and are being developed to have fewer side effects.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” This case report describes a patient with ulerythema ophryogenes who had developmental and physical anomalies and showed no improvement with topical or oral isotretinoin treatments.
18 citations
,
January 1992 in “Dermatology” This case report details atrichia with papular lesions in a 4-year-old girl, highlighting specific histological findings on her scalp and other affected areas.
March 2009 in “Encyclopedia of Life Sciences” This article reviews keratin disorders and highlights recent progress in therapeutic approaches, including a clinical trial for pachyonychia congenita using siRNA, but reports no new clinical findings.
4 citations
,
January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
August 2016 in “Journal of the American Academy of Dermatology” This case study presents a 9-month-old male infant with symptoms suggesting a likely diagnosis of Hay–Wells syndrome, including severe scalp crusting, nail abnormalities, and partial syndactyly.
42 citations
,
September 1985 in “British Journal of Dermatology” This study found that trichothiodystrophic hair shows reduced and disoriented protein deposition in follicles, with both the cuticle and cortex affected, providing localized structural insights into keratin abnormalities.
37 citations
,
June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
January 2011 in “대한피부과학회지” This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
532 citations
,
August 2011 in “Journal of the American Academy of Dermatology” This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.
291 citations
,
January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
233 citations
,
November 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This review explores androgen metabolism in the skin, highlighting enzyme localization and potential implications for treating androgen-dependent skin conditions, but it reports no new clinical results.
229 citations
,
August 2002 in “Experimental Gerontology” This paper discusses key mechanisms of androgen metabolism in androgenetic alopecia and reports the effectiveness of treatments like oral finasteride and topical minoxidil, highlighting the limited success rate due to factors like follicular inflammation.
211 citations
,
June 2012 This review discusses recent advances in skin penetration mechanisms, specifically focusing on the enhanced understanding of the follicular pathway and its implications for transdermal therapies, immune system targeting, and nanoparticle safety.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
175 citations
,
April 1982 in “Journal of The American Academy of Dermatology” This study found that oral isotretinoin achieved good to excellent clinical results in treating severe inflammatory acne, severe rosacea, and gram-negative folliculitis.
156 citations
,
August 2016 in “Journal of controlled release” This review summarizes current knowledge on tight junctions in mammalian skin and their role in drug delivery and interaction with other barrier components, but reports no new experimental results.
155 citations
,
August 1991 in “Journal of The American Academy of Dermatology” This article reviews methotrexate's pharmacokinetics and toxicity, emphasizing the role of urinary excretion and leucovorin in avoiding most toxic reactions; it provides no new clinical results.
147 citations
,
April 1994 in “Drug Safety” Some drugs can cause hair loss or increase hair growth, but these effects are usually reversible when the drug is stopped.
141 citations
,
March 2011 in “Journal of Dermatology” This study in Japan found varying prevalence of skin disorders, with atopic dermatitis common in children and tinea pedis in the elderly, and observed gender differences in disease susceptibility.
140 citations
,
January 2009 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This review discusses the application of liposomes in dermatology, highlighting their therapeutic value for drug stabilization, skin penetration enhancement, and treatment of hair follicle-associated disorders, but reports no new clinical results.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
136 citations
,
May 2016 in “Phytotherapy Research” This systematic review suggests that turmeric and curcumin products, both oral and topical, may offer therapeutic benefits for various skin conditions, though further research is necessary to evaluate efficacy more thoroughly.
130 citations
,
August 2020 in “Drug Design Development and Therapy” This review discusses various nanoparticles used to enhance skin permeation and target delivery to skin organelles, but reports no new experimental results.