31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
5 citations
,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
16 citations
,
February 2017 in “Dermatology and Therapy” The new visual scale is a quick and effective way to measure hair loss in women.
29 citations
,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
January 2025 in “Indian Journal of Dermatology” Frontal fibrosing alopecia is a challenging hair loss condition with no known cause or definitive treatment.
1 citations
,
May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
May 2025 in “International Journal of Women’s Dermatology” CCCA mainly affects Black women and is linked to high-tension hairstyles, heating tools, chemical relaxants, and genetics.
54 citations
,
January 2023 in “Signal Transduction and Targeted Therapy” New therapies are being developed that target integrin pathways to treat various diseases.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
26 citations
,
January 2007 in “Organogenesis” Bioengineering can potentially treat hair loss by regenerating hair follicles and cloning hair, but the process is complex and needs more research.
7 citations
,
January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
29 citations
,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
11 citations
,
July 2012 in “International Journal of Trichology” Caffeine may help hair growth in hereditary hair loss.
6 citations
,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
3 citations
,
January 2020 in “Acta Dermato Venereologica” Netherton Syndrome can cause severe skin lesions in rare cases.
August 2024 in “Journal of Dermatology & Cosmetology” Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
147 citations
,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.