Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.

In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.

This article reviews various updates in dermatology, including drug safety alerts and treatment options, and reports no new clinical results.

This case report highlights the rare overlap of DRESS and Stevens-Johnson syndrome following antituberculosis treatment, emphasizing the critical importance of timely diagnosis and intervention to manage severe symptoms and prevent organ damage.

This review discusses the development and potential therapeutic applications of steroid sulfatase inhibitors for hormone-dependent disorders and cognitive dysfunction, reporting no new clinical results.

This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.

This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.

This study reported that BRL 7660 significantly reduced sebum secretion and acne symptoms in human studies with topical administration, but the placebo effect and commercial pressures halted further investigations.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

This review discusses various treatments for pityriasis rubra pilaris, including vitamin A, methotrexate, and systemic steroids, reporting historical anecdotal evidence without new clinical results.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This article reviews the clinical characteristics, treatment challenges, and epidemiology of community-acquired methicillin-resistant Staphylococcus aureus infections, highlighting their spread outside traditional hospital settings but presenting no new clinical results.

This case report from the study described a 62-year-old woman with pityriasis rubra pilaris and Kaposi's varicelliform eruption, whose skin condition improved significantly with isotretinoin treatment over 43 weeks.

In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.

This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.

In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This case study reports a cutaneous adverse drug reaction in a dog caused by prolonged topical exposure to benzyl benzoate, leading to irritant contact dermatitis, but healing occurred within three weeks after changing treatment.

This case report describes a rare aggressive variant of squamous cell carcinoma on the scalp of a non-immunosuppressed older male, highlighting its high biological risk for metastasis and poor outcomes.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

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 study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.