9 citations
,
August 2021 in “Experimental dermatology” This review examines the dysregulation of innate immune barriers in the early stages of hidradenitis suppurativa and calls for further research on the role of the hair follicle and immune responses, but reports no new results.
1 citations
,
November 2023 in “Journal of Investigative Dermatology” Farudodstat may effectively treat alopecia areata without harming hair follicles.
1 citations
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April 2008 in “Experimental Dermatology” This paper reviews hidradenitis suppurativa, comparing its clinical and histopathological characteristics to acne, questioning the proposed link to terminal hair follicles, and reports no new results.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
28 citations
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August 2003 in “Steroids” This study found that untreated hirsute patients have lower expression of type 2 17β-HSD mRNA in scalp hairs, indicating potential disturbances in androgen metabolism, compared to treated hirsute patients.
April 2023 in “Journal of Investigative Dermatology” In this study, researchers developed a mouse model of scarring alopecia and observed significant reductions in CD200R expression in affected skin, potentially linking this signaling pathway to immune attacks on hair follicles and suggesting new treatment targets for scarring hair loss.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
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.
11 citations
,
September 2000 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This article discusses the challenges in diagnosing and treating hidradenitis suppurativa, a recurrent skin disease, noting the lack of effective treatments and the need for more research, but it reports no new findings.
2 citations
,
December 2022 in “The Journal of Dermatology” This study found that patients with hidradenitis suppurativa had significantly higher levels of cell-free DNA in their serum compared to healthy controls, suggesting its potential as a biomarker for the disease.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
27 citations
,
December 2015 in “Mayo Clinic Proceedings” This review presents an evidence-based algorithm for managing hidradenitis suppurativa in primary care, highlighting the need for more research on treatment effectiveness and the disease's pathogenesis.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
October 2022 in “Dermatology practical & conceptual” This study found that bipolar disorder is more prevalent in patients with hidradenitis suppurativa than in those with psoriasis or in control groups.
4 citations
,
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.
September 2023 in “Acta dermato-venereologica” This study found that pilonidal sinus disease is a common comorbidity with hidradenitis suppurativa and is linked with increased disease severity, suggesting it may serve as a sentinel event for identifying high-risk patients.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
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.
29 citations
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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.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” In this study, single-cell RNA sequencing of hair follicle populations from hidradenitis suppurativa patients identified three endotypes, suggesting distinct epithelial-immune interactions that may guide stratified therapeutic approaches.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
78 citations
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January 2013 in “Dermatology Online Journal” This review discusses various diseases associated with hidradenitis suppurativa, including obesity, arthritis, and pyoderma gangrenosum, but reports no new clinical results and calls for further research.