30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
29 citations
,
December 2019 in “Expert review of clinical pharmacology” This review discusses the evidence supporting Janus kinase inhibitors for alopecia areata and highlights ongoing optimism as phase 3 trials begin, with no new clinical results reported.
27 citations
,
December 2015 in “Clinical and Experimental Dermatology” This study found that hair regrowth occurred in 72.2% of alopecia areata patients treated with diphencyprone, with disease extent at baseline and duration affecting outcomes.
25 citations
,
August 2020 in “Experimental eye research/Experimental Eye Research” This review discusses cornea-specific keratin expression patterns in human and mouse development and reports no new experimental results; it highlights the need for investigating keratin mutations' role in pathology.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
21 citations
,
January 2013 in “Clinical Endoscopy” This study reports the first case in South Korea of Cronkhite-Canada syndrome associated with malignant colon polyp and serrated adenoma.
21 citations
,
January 2005 in “Skinmed” This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.
18 citations
,
August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
18 citations
,
January 2017 in “Postępy Dermatologii i Alergologii” This review discusses the adverse skin effects of EGFR inhibitors used in cancer treatment, exploring their mechanisms and offering strategies for prevention and management, but reports no new experimental findings.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
16 citations
,
October 1992 in “Journal of cutaneous pathology” This study examined two cases of bubble hair deformity using light and electron microscopy, suggesting that trauma to the hair shaft may contribute to this condition.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
14 citations
,
October 2018 in “PloS one” In this study, Far2-/- mice were observed to develop focal alopecia with altered sebaceous gland morphology and lower skin lipid levels compared to wildtype mice.
13 citations
,
July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
13 citations
,
November 2012 in “Journal of The European Academy of Dermatology and Venereology” This study found that topical clobetasol propionate cream provided a modest improvement in hair regrowth for alopecia areata patients, though those with atopy had higher relapse rates after treatment completion.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
12 citations
,
January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
12 citations
,
January 2013 in “Indian dermatology online journal” This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
10 citations
,
October 2017 in “Archivos Argentinos De Pediatria” This study described the range and treatment of skin disorders among pediatric inpatients at a teaching hospital, finding allergic skin diseases as the most common group, primarily diagnosed clinically.
8 citations
,
April 2017 in “American Journal of Dermatopathology” In this study, nail matrix pathology in a patient with Cronkhite–Canada Syndrome revealed matrix hypergranulosis, suggesting that an inflammatory process may play a key role in the condition's pathogenesis.
7 citations
,
January 2013 in “Journal of Investigative Dermatology” This study suggests that dietary vitamin A may influence alopecia development and progression, but the mechanisms remain unclear, highlighting the interplay between genetics and nutrition in these hair loss conditions.
6 citations
,
August 2019 in “PLOS ONE” The researchers reported that Gambogic Amide may prevent hair greying and promote hair growth by maintaining follicle pigmentation in vitro through activation and migration of melanocytes.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” This case report highlights an 11-year-old girl with dermatopathia pigmentosa reticularis, identifying associated Salzmann's nodular degeneration of the cornea and emphasizing the need for a multidisciplinary management approach.
4 citations
,
June 2014 in “The Journal of Dermatology” Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
4 citations
,
December 2001 in “Endoscopy” In this case study, administration of prednisolone and Bactrim for a woman with Cronkhite-Canada syndrome led to the cessation of diarrhea, increased serum protein, and improvement in hyperpigmentation and hair regrowth.