June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
46 citations
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July 2008 in “Dermatologic Therapy” This study developed and evaluated a photographic scale to assess CCCA pattern and severity in African American women, finding it reproducible when used by investigators and participants.
6 citations
,
August 2022 in “Dermatologic therapy” This study reports that platelet-rich plasma therapy resulted in temporary hair growth in patients with stabilized Central Centrifugal Cicatricial Alopecia.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
11 citations
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March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
19 citations
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September 2021 in “British journal of dermatology/British journal of dermatology, Supplement” This study suggests that pretreatment with a PPAR-γ modulator may prevent damage to hair follicle stem cells caused by a chemotherapy metabolite, potentially offering a strategy to mitigate permanent chemotherapy-induced alopecia.
2 citations
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June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
296 citations
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October 2018 in “General and Comparative Endocrinology” This review discusses the use of hair cortisol concentration as a marker for chronic stress and long-term cortisol secretion in animals, highlighting its benefits and the need for standardized sampling protocols.
19 citations
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January 2015 in “Skin appendage disorders” This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.
May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
6 citations
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December 2015 in “Medicine” This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” In this case report, treatment with corticosteroids improved both clinical symptoms and hormonal imbalances in a 27-year-old woman diagnosed with non-classic congenital adrenal hyperplasia.
30 citations
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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.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
January 2006 in “Actas Urológicas Españolas” This retrospective study observed no significant difference in the prevalence of incidental prostate cancer between suprapubic prostatectomy and transurethral prostate resection groups, with most tumors being well differentiated and early-stage.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.
146 citations
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February 2012 in “Journal of Clinical Investigation” This review discusses the role of Hedgehog signaling in basal cell carcinoma development and highlights genetic mouse models and potential targeted therapies, but reports no new clinical results.
188 citations
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January 2022 in “PubMed” This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
In this case study, a 70-year-old male with lymphoid variant hypereosinophilic syndrome presented with rare isolated pulmonary involvement, which improved with prednisone treatment.
5 citations
,
February 2017 in “Australasian Journal of Dermatology” This report describes three cases of hair loss that appear consistent with cicatricial pattern hair loss, a possible new subtype of scarring alopecia presenting in a female pattern hair loss distribution.
2 citations
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January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
January 2011 in “Medical Journal of National Defending Forces in Northwest China” This study found that hypodermic injections of human dermal papilla cells conditioned medium led to hair regrowth in women with androgenetic alopecia, with an effective rate of 83.33%.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that 6.1% of new patients seeking PRP therapy for hair loss had undiagnosed cicatricial alopecia, highlighting the importance of proper diagnosis by trained dermatologists to optimize treatment outcomes.
April 2024 in “Journal of the American Academy of Dermatology” Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.