September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
35 citations
,
February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
6 citations
,
August 2008 in “Journal of Paediatrics and Child Health” A gluten-free diet resolved a girl's symptoms, revealing undiagnosed Coeliac disease as the cause.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
September 2025 in “Cermin Dunia Kedokteran” Candida nail infections need lab tests for accurate diagnosis and treatment.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
16 citations
,
January 2008 in “Acta dermato-venereologica” Vitamin B12 deficiency can cause skin darkening and increased blood vessels, but treatment can improve symptoms.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
19 citations
,
July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
144 citations
,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
4 citations
,
March 2015 in “Australasian Journal of Dermatology” Hair loss is linked to insulin resistance in women, regardless of hormone levels.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
21 citations
,
January 1997 in “Nephron” Silicon may affect calcium metabolism in dialysis patients, causing symptoms like skin eruptions and abnormal hair growth.
November 2025 in “Frontiers in Endocrinology” Women with prediabetes may have a higher risk of PCOS-like changes, especially if they have impaired glucose tolerance.
2 citations
,
May 2025 in “IntechOpen eBooks” Early treatment with corticosteroids and immunosuppressants is crucial for managing Vogt-Koyanagi-Harada disease.
January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
7 citations
,
September 2019 in “Journal of Investigative Dermatology”
1 citations
,
July 2014 in “Nepal journal of dermatology, venereology & leprology” Patients with chronic kidney disease on hemodialysis often have skin problems.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
6 citations
,
April 2019 in “Journal of Pediatric Endocrinology and Metabolism” Metformin improved menstrual cycle regularity and signs of hyperandrogenism in adolescent girls with type 1 diabetes but did not improve blood sugar control.
56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
45 citations
,
October 2018 in “JCI Insight” Entospletinib effectively prevents eye and skin GVHD in mice.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
14 citations
,
January 2008 in “Gynecological Endocrinology” High levels of male hormones in women without tumors are linked to metabolic problems and can be treated with metformin.
24 citations
,
November 1997 in “Journal of Biological Chemistry” Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.