7 citations
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May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
4 citations
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May 2020 in “Journal of The American Academy of Dermatology” This letter argues that cicatricial pattern hair loss likely represents end-stage androgenetic alopecia and not a variant of lichen planopilaris, as previously suggested.
21 citations
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January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
April 2020 in “Journal of the Endocrine Society” This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces the Hair Cell Analysis Toolbox (HCAT), a machine-learning software that automates the analysis of cochlear hair cells, enabling unbiased and comprehensive imaging data interpretation.
42 citations
,
April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
2 citations
,
April 2023 in “American Journal of Dermatopathology” This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.
January 2026 in “Dermatology Online Journal” This case report highlights that CCCA can present with multifocal patchy hair loss in younger men of African descent, suggesting the need for careful evaluation when diagnosing atypical alopecia patterns.
1 citations
,
April 2022 in “The Journal of Family Practice” This report describes early and late stages of central centrifugal cicatricial alopecia in two Black women, highlighting progression from a small to a large central patch of hair loss.
4 citations
,
July 2020 in “BMC Complementary Medicine and Therapies” This study suggests that human placenta treatment may promote hair regrowth in chemotherapy-induced alopecia by inhibiting apoptosis and encouraging hair follicle proliferation in a mouse model.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
This review discusses central centrifugal cicatricial alopecia and emphasizes the need for more research to understand and manage the disease, while also suggesting initiatives like educating hairstylists for early detection.
February 2026 in “Psychoneuroendocrinology” Hair cortisol concentration partly reflects HPA axis regulation but doesn't capture all its complexities.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
14 citations
,
December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
17 citations
,
September 2010 in “Pediatric dermatology” This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.
2 citations
,
February 2000 in “International Journal of Dermatology” This article presents four case reports of men with porphyria cutanea tarda and hepatitis C, highlighting associations with polysubstance abuse, primarily alcohol.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
14 citations
,
August 2009 in “Cancer epidemiology” This study found that AHCC significantly reduced alopecia caused by Ara-C in neonatal rats and improved liver function affected by 6-MP and MTX in mice.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.