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In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.

This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.

This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.

This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.

This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.

This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.

This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.

This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.

This case report details the first known instance of interferon-induced lichen planus in a seronegative HCV patient with metastatic renal cell carcinoma.

This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.

In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.

This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.