Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This article discusses common skin side effects of EGFR inhibitors like cetuximab, noting their management remains based on clinical experience without strict therapy protocols, but provides no new clinical findings.

This study observed that gerbils exhibit a different wound healing mechanism compared to mice, with lower TGF-B1 expression and distinct tissue responses, yet achieve similar healing outcomes.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.

This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.

This study found that children with celiac disease who adhered to a gluten-free diet experienced significant improvements in height, weight, and symptoms like diarrhea and abdominal pain, although cases of abdominal distention increased.

This report describes a rare case of a non-small-cell lung cancer patient experiencing hair changes after prolonged gefitinib treatment, potentially linked to EGFR inhibition, with limited understanding of its cause.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

This study mapped the safety profile of EGFR-TKIs by analyzing FDA adverse event reports, highlighting unexpected reactions like intestinal obstruction and hypokalaemia with gefitinib and erlotinib.

In this study, a combined therapy of nicotinamide and green tea polyphenols was reported to improve EGFR inhibitor-related skin toxicity and patient quality of life, suggesting it merits further investigation.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Erlotinib may cause scarring hair loss.

This case report describes a 42-year-old woman who experienced positional vertigo, gradual hearing loss, and tinnitus after undergoing laparoscopic sleeve gastrectomy, suggesting a potential link between these complications and the procedure.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

This article discusses the cutaneous side effects of erlotinib, an EGFR inhibitor, in a patient with non-small cell lung cancer, reporting nonscarring alopecia and indicative scalp biopsy findings.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.

This review discusses the range of cutaneous side-effects caused by EGFR inhibitors in cancer therapy and explores available treatment options, without reporting new clinical findings.

This study found that gastrodin promotes the XIAP-DDRGK1 pathway in noise-exposed mice, reducing hearing loss by enhancing ER-phagy and cochlear cell survival.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.

In this report, two cases of non-small cell lung cancer treated with gefitinib showed unexpected hair growth, suggesting a potential new application of EGFR-TKIs for alopecia.

This historical review traces the discovery of 5-alpha reductase inhibitors, widely used in urology, from the study of guevedoces, Dominican children with a rare disorder leading to significant androgenization at puberty.

This article describes erosive pustular dermatosis of the scalp, emphasizing its chronic nature, potential complications, and the lack of specific diagnostic findings, but reports no new clinical results.

This case report describes a patient who developed PRIDE syndrome-associated skin issues, including a pruritic papulopustular rash and alopecia, after starting treatment with the EGFR inhibitor erlotinib.

This article reviews common skin reactions associated with epidermal growth factor receptor inhibitors and reports no new clinical findings, emphasizing the need for understanding nursing care and oncodermatology.

This study found that feminizing hormone therapy increased GFR in transgender individuals assigned male at birth, suggesting an effect of sex hormones on kidney hemodynamics, while masculinizing therapy showed a slight, nonsignificant decrease in GFR.

This article discusses the common cutaneous side effects associated with EGFR inhibitors, emphasizing the importance of their management due to potential impacts on patients' quality of life and therapy response; no new empirical findings are reported.

In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.