This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” This case study presents an 81-year-old woman diagnosed with Cronkhite-Canada syndrome and discusses the importance of recognizing its clinical and histopathological features for timely and accurate diagnosis.
48 citations
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March 2020 in “Stem Cell Research & Therapy” This study found that human adipose-derived stem cells co-cultured on a collagen sponge scaffold showed increased differentiation into keratinocytes, suggesting potential for improved skin wound healing.
December 2025 in “JGH Open” In this case study, a 78-year-old Japanese woman with Cronkhite-Canada syndrome experienced mesenteric lymphadenopathy, which reduced in size after treatment with the corticosteroid prednisolone. This suggests that mesenteric lymphadenopathy, though uncommon in CCS, may respond to steroid therapy.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
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.
45 citations
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November 2015 in “Dermatologic Clinics” This review discusses the potential hormonal and metabolic factors influencing hidradenitis suppurativa and highlights the need for further research to explore hormonal dysregulation's role in the disease.
1 citations
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June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
February 2023 in “JEADV Clinical Practice” This case report describes a girl with uncombable hair syndrome who showed significant improvement in hair combability and growth rate after two cycles of oral biotin supplementation.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
June 2026 in “Comprehensive Psychoneuroendocrinology” In this study, researchers observed a curvilinear relationship between loneliness and hair cortisol concentration among older adults at elevated cardiovascular risk, with cortisol levels higher at low-to-moderate loneliness and lower at higher loneliness, though results were sensitive to some data exclusions.
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.
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.
50 citations
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November 2020 in “Physiology & behavior” This review found that patients with depression generally have higher hair cortisol concentrations compared to healthy controls, while those with PTSD tend to have lower concentrations.
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.
June 2022 in “Dermatologic Therapy” This case report describes a 14-year-old girl with congenital hypotrichosis who experienced improved hair density and thickness after 3 months of treatment with oral minoxidil.
June 2019 in “International journal of dermatology and venereology” This review discusses the hedgehog signaling pathway's role in cutaneous tumors and hematological disorders, highlighting its potential as a therapeutic target, but reports no new clinical findings.
November 2023 in “International Journal of Dermatology” In this study, CCCA patients were found to have higher odds of metabolic, autoimmune, atopic, and psychiatric comorbidities compared to matched controls.
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.
1 citations
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April 2015 in “International Journal of Pediatrics and Adolescent Medicine” This case report describes a patient with hemophagocytic lymphohistiocytosis who developed hypertrichosis and eyelash trichomegaly, likely linked to cyclosporine-A and prednisolone therapy, with expected resolution after stopping treatment.
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.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
12 citations
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April 2016 in “PLoS ONE” This study found that the Chinese version of the Polycystic Ovary Syndrome Quality of Life Questionnaire (Chi-PCOSQ) is sensitive to clinical changes and effectively assesses health-related quality of life in Chinese women with PCOS.
150 citations
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November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
February 2025 in “Cureus” This case report describes a 37-year-old female with non-classical congenital adrenal hyperplasia who presented with severe acne, progressive hair loss, and primary infertility, managed with prednisolone.
28 citations
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August 2020 in “F1000Research” This review discusses the multifactorial pathogenesis of hidradenitis suppurativa and calls for more diverse, standardized clinical trials to improve treatment and understanding of dietary influences, reporting no new results.
2 citations
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October 2018 in “Skin appendage disorders” This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.
January 2022 in “Gastro Hep advances” This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.
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.