11 citations
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May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 32-year-old man who developed SCC of the common bile duct a year after receiving treatment for a malignant proliferating trichilemmal tumour on the scalp.
17 citations
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June 2017 in “British Journal of Dermatology” This review examines the interaction between hedgehog and Wnt/β-catenin signalling in hair follicles and basal cell carcinoma, linking Hh pathway inhibition to both tumor regression and alopecia.
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.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
1 citations
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December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
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.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
32 citations
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November 2011 in “International Journal of Dermatology” This article reviews central centrifugal cicatricial alopecia, focusing on its multifactorial etiology and challenges in clinical diagnosis, and calls for more research and better treatment options.
64 citations
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June 2014 in “Journal of The American Academy of Dermatology” This study found that a peripilar white gray halo around hair emergence is a highly specific and sensitive dermatoscopic feature for diagnosing central centrifugal cicatricial alopecia in African American patients with mild central thinning.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
8 citations
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April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
This source explains that Equine Cushing’s disease, or PPID, in horses is due to the degeneration of brain cells producing dopamine, leading to elevated cortisol levels and characteristic symptoms; it outlines diagnosis methods and emphasizes life-long pergolide treatment to manage the condition.
1 citations
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September 2025 in “Viruses” This study of HCPS survivors in Chile found that 61.9% reported incomplete recovery at 3-6 months post-symptom onset, with ECMO users experiencing more motor dysfunction and palpitations, highlighting the need for multidisciplinary care to address persistent symptoms.
2 citations
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January 2017 in “PubMed” This case report describes a 22-year-old male with hair casts on scalp and body hair, associated with androgenetic alopecia, also affecting his sister as pseudonits.
November 2011 in “Molecular Cancer Therapeutics” This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.
5 citations
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April 2023 in “Life” This review discusses central centrifugal cicatricial alopecia in adolescents, noting varied presentation and highlighting genetic and environmental factors, but reports no new clinical findings.
11 citations
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August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
190 citations
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July 2006 in “Experimental Dermatology” This review discusses the role of the sonic hedgehog pathway in skin development and cancer, highlighting its potential as a target for chemoprevention and treatment; it reports no new findings.
2 citations
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August 2013 in “British Journal of Dermatology” This case report observed a dramatic improvement in a 15-year-old girl's pachyonychia congenita symptoms during chemotherapy for Ewing sarcoma, suggesting chemotherapy's potential role in managing hyperkeratotic conditions.
December 2013 in “대한피부과학회지” This study described the clinical characteristics of chemotherapy-induced permanent alopecia, highlighting two patterns: diffused and androgenetic, and noting limited treatment response with minoxidil or finasteride.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
1 citations
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October 2024 in “Indian Dermatology Online Journal” This case report describes a 36-year-old man who developed generalized eruptive histiocytosis on the scalp after undergoing nine platelet-rich plasma treatments for hair loss, likely triggered by injection-related trauma and inflammation.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.