September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This case report suggests that in African-American patients, the histology of Central Centrifugal Cicatricial Alopecia may resemble lichen planopilaris, indicating a potential diagnostic challenge.
August 2022 in “JAAD case reports” This case report describes a 36-year-old woman with hidradenitis suppurativa whose condition progressed to rapidly fatal squamous cell carcinoma, highlighting the potential for aggressive tumor development linked to specific protein markers.
11 citations
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January 2013 in “Indian Dermatology Online Journal” This article reviews central centrifugal cicatricial alopecia, including its various forms and potential multifactorial causes, but provides no new clinical findings.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
56 citations
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December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
May 2025 in “Cellular Oncology” This study suggests that dual inhibition of P-cadherin and c-Met could be an effective treatment strategy for head and neck squamous cell carcinoma by targeting resistant tumor cells.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
December 2016 in “Journal of Pakistan Association of Dermatologists” This case study describes a 22-year-old woman with hirsutism who experienced symptom reversal through addressing nonclassical adrenal hyperplasia and polycystic ovaries alongside laser hair removal.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
49 citations
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January 2010 in “International Journal of Pediatric Endocrinology” This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
October 2020 in “The American Journal of Gastroenterology” This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.
24 citations
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June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
4 citations
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January 1992 in “Clinical Oncology” This report describes three cases of hypertrichosis lanuginosa acquisita occurring after cytotoxic chemotherapy for cancer, suggesting a possible relationship which is discussed alongside a review of existing literature.
2 citations
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October 2021 in “Research Square (Research Square)” This study found that in patients undergoing allogeneic hematopoietic stem-cell transplantation, older age significantly increases the risk of hemorrhagic cystitis, especially in males, who are also affected by prostatic hyperplasia.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
3 citations
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January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
5 citations
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February 2022 in “Supportive Care in Cancer” This study found that age is the most significant risk factor for hemorrhagic cystitis after hematopoietic stem-cell transplantation, with additional risk factors including cyclophosphamide-based prophylaxis and, among male recipients, prostatic hyperplasia.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
2 citations
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August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
4 citations
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June 2005 in “British Journal of Dermatology” HPV 60 may cause cysts and warts on the face, not just hands and feet.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
15 citations
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December 2009 in “PubMed” This case study highlights a pediatric instance of eruptive vellus hair cysts partially responding to calcipotriene cream, aiming to remind clinicians about this often overlooked condition.
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.