August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” 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.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
6 citations
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December 2022 in “International Journal of Molecular Sciences” This review explores the hormonal factors related to hidradenitis suppurativa, emphasizing insulin resistance and pro-inflammatory adipokines, but reports no new clinical findings and suggests further research is needed.
2 citations
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January 2009 in “Human cell culture”
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
April 2016 in “Journal of Investigative Dermatology” Iron deficiency causes hair loss by affecting hair differentiation and cycling.
December 2016 in “Journal of Pakistan Association of Dermatologists” This case study describes a 22-year-old woman with hirsutism who experienced symptom reversal through addressing nonclassical adrenal hyperplasia and polycystic ovaries alongside laser hair removal.
2 citations
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July 2024 in “Journal of the American Academy of Dermatology” Elderly patients have more severe hidradenitis suppurativa and may need different treatments.
October 2024 in “Journal of the Endocrine Society” 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.
1 citations
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July 2021 in “Acta dermatovenerologica Croatica” This case report describes regression of hidradenitis suppurativa lesions in two patients after 16 weeks of adalimumab treatment.
9 citations
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July 2017 in “Case Reports in Dermatology” This case study describes a 19-year-old female with hidradenitis suppurativa whose symptoms and metabolic abnormalities improved significantly over 3 years on a combined regimen, though some skin lesions persisted.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
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.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
April 2020 in “Journal of the Endocrine Society” This case report details an atypical presentation of Hodgkin's lymphoma in an 87-year-old man, where severe hypercalcemia and mental status changes prompted further investigation and diagnosis.
7 citations
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October 2020 in “Journal of The American Academy of Dermatology” This systematic review and meta-analysis found that hidradenitis suppurativa is associated with an increased risk of major adverse cardiac events, including cerebrovascular accidents and myocardial infarction, although study heterogeneity affects the magnitude of risk.
2 citations
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January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
In this case report, a 25-year-old woman with VKHD experienced an unusual occurrence of vellus-like hair growth on her normally hairless palm, observed twice over two years, expanding the known integumentary manifestations of VKHD.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
2 citations
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June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
1 citations
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March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
13 citations
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September 2022 in “Biomolecules” This study found that specific gene upregulations and mutations in hidradenitis suppurativa skin support the role of inflammation, altered epithelial differentiation, and metabolism dysregulation in the disease's pathogenesis.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.