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.
16 citations
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August 2000 in “British Journal of Dermatology” In this case report, lichen myxedematosus associated with hepatocellular carcinoma showed progressive improvement in skin lesions without further treatment following tumor resection.
September 2024 in “Dermatologica Sinica” This article describes a 10-month-old female with congenital smooth muscle hamartoma, highlighting the importance of differential diagnosis in congenital skin lesions due to potential malignancy risks.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
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.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
April 2025 in “The Journal of Clinical Endocrinology & Metabolism” This study highlights the global prevalence of hirsutism in women and reviews its diagnostic criteria, potential underlying causes like polycystic ovary syndrome, and treatment options, emphasizing the need for tailored, multifaceted management and acknowledging the distress it causes patients.
52 citations
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October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
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.
126 citations
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October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
13 citations
,
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.
1 citations
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August 2015 in “PubMed” This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.
April 2008 in “Obstetrics, gynaecology and reproductive medicine” This article reviews the diagnosis and management of hirsutism in women, discussing its causes, assessment, and treatment options; no new clinical findings are included.
April 2026 in “Journal of Cutaneous Pathology” This case report describes the first known instance of alopecia associated with multicentric reticulohistiocytosis, evidenced by scalp biopsy findings of histiocyte infiltration in a 52-year-old woman.
7 citations
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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.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
May 2023 in “Animal Reproduction Update” This article reviews the use of hair cortisol concentration as a biomarker to assess long-term stress in both animals and humans, but it reports no new experimental results.
8 citations
,
October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
98 citations
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July 2011 in “Fertility and Sterility” This study determined that an mFG score of 5 or greater defines hirsutism among Southern Chinese women, with prevalence and score thresholds decreasing with age.
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.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
2 citations
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March 2018 in “INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY” This case report describes a pregnant woman diagnosed with Cushing Syndrome, likely due to an adrenal tumor, whose condition worsened during hospitalization, resulting in heart failure, sepsis, and shock.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
May 2020 in “International journal of dermatology and venereology” This study introduces the term "hair matrix cyst" for a cyst with both pilomatricoma and epidermal cyst characteristics, highlighting its potential for misdiagnosis among similar skin conditions.