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This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.

This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.

This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.

This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.

This study found that plasma 3 alpha-diol glucuronide was markedly elevated in women with idiopathic hirsutism, suggesting it may be a marker of peripheral androgen action.

This case report describes the first known instance of hereditary choreiform disorder associated with and aggravated by systemic lupus erythematosus, highlighting the need for vigilance in diagnosing co-existing autoimmune conditions.

This report presents a case of hereditary elliptocytosis in a 37-year-old woman with iron deficiency anemia, identifying a high percentage of elliptocytes in her blood after treatment.

This study undertook a retrospective chart review to examine the link between the severity of female pattern hair loss and abnormal cholesterol levels in patients from a specialty alopecia clinic, but results are not reported.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This case report highlights a rare presentation of acute lupus hemophagocytic syndrome with initially negative antinuclear antibodies, underscoring the higher sensitivity of the 2012 Systemic Lupus International Collaborating Clinics criteria for diagnosis.

This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.

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

This study found that in lamivudine-resistant hepatitis B patients, tenofovir significantly reduced HBV DNA levels faster and more consistently than adefovir, reaching undetectable levels in all treated patients by 44 weeks.

This study demonstrated a significant association between high lipid accumulation product (LAP) and hirsutism in women with polycystic ovary syndrome (PCOS).

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.

In this study, researchers observed increased hormone levels such as testosterone and LH in both obese and non-obese women with Polycystic Ovary Syndrome, but concluded that the enzyme 3βHSD shows poor diagnostic value for PCOS compared to healthy women.

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.

In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This case report highlights lichen planus pigmentosus in a 60-year-old man, which was linked to previously undetected hepatitis C infection and liver cirrhosis, suggesting a need for hepatitis C testing in patients with similar dermatological manifestations.

This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.

This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This case report describes a 61-year-old female with hyperandrogenic symptoms, where an ovarian hemangioma with stromal luteinization was identified and surgically removed, resulting in improved symptoms.

ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.

This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.