Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.

This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.

This study identified 674 differentially expressed proteins in the skin tissues of male and female Chinese merino sheep, suggesting gender-specific molecular mechanisms that may affect wool traits.

This review explores whether oligomenorrhoea in exercising women is a mild subclinical phenotype of PCOS or part of a spectrum of energy deficiency-related menstrual disturbances, without new clinical results.

This review discusses the challenges in measuring testosterone for assessing androgen excess in women and emphasizes the importance of quality control in laboratory methods, but it reports no new clinical results.

This study reported that MALDI-TOF Mass Spectrometry profiling demonstrated nearly 100% sensitivity and specificity in detecting adenomyosis and leiomyoma, revealing potential peptide markers for these conditions.

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 describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This review outlines the various adverse reactions to biologic therapies in Allergy/Immunology, emphasizing the clinical and management challenges due to overlapping reaction phenotypes and the need for more refined diagnostic and management strategies.

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

This study observed that women with PCOS and no hyperandrogenism (group 3) had similar metabolic issues to those with classic PCOS, while those with no menstrual dysfunction (group 2) had milder issues related to lipid and insulin resistance.

This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.

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 identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.

In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.

This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.

Mutations in the DSG4 gene cause specific hair and scalp issues.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study examined 162 patients and found that those with both alopecia areata and atopic diseases showed higher cases of severe alopecia in children and a tendency for combined atopic diseases. Sensitization patterns were similar between alopecia areata patients and those with atopic diseases alone.

In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.