14 citations
,
June 2016 in “Pediatric Dermatology” This review discusses the prognosis and treatment options for hair shaft disorders, finding no studies but suggesting some disorders improve with specific treatments like minoxidil and retinoids, while gentle hair care remains essential.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
12 citations
,
January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
11 citations
,
July 2012 in “Current Opinion in Pediatrics” This review discusses dermatologic signs in childhood endocrine disorders and highlights their importance in early diagnosis and treatment, but it reports no new clinical findings.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
10 citations
,
October 2017 in “Archivos Argentinos De Pediatria” This study described the range and treatment of skin disorders among pediatric inpatients at a teaching hospital, finding allergic skin diseases as the most common group, primarily diagnosed clinically.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” This study developed a detailed classification system for functional androgenization in females that may enhance diagnosis and personalized treatment by identifying individual dysfunctions.
8 citations
,
December 1981 in “Journal of The American Academy of Dermatology” This review addresses clinical findings in parathyroid disease and discusses the metabolism of calcium, phosphorus, vitamin D, and parathyroid hormone, reporting no new results.
7 citations
,
July 2011 in “Survey of Ophthalmology” This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
6 citations
,
October 2022 in “American journal of clinical dermatology” This review provides an updated overview of the symptomatology, diagnosis, trichoscopy findings, and treatment options for eyebrow and eyelash alopecia, but it reports no new experimental results.
6 citations
,
March 2020 in “Jornal de Pediatria” This study found that inflammatory dermatoses, especially atopic dermatitis, were the most common pediatric skin conditions at a Brazilian reference center, highlighting different patterns compared to adult skin disorders.
6 citations
,
February 2013 in “Veterinary Dermatology” This case report describes the first documented occurrence of pili torti in a healthy young adult cat, marked by noninflammatory and nonpruritic symmetrical multifocal alopecia.
6 citations
,
October 1993 in “The journal of the Royal Society of Health” Children's hair loss has many causes and requires careful diagnosis and personalized treatment, including emotional support.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
5 citations
,
January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
5 citations
,
September 1986 in “Pediatric Dermatology” This study reported a previously undescribed form of hereditary hypotrichosis in a family, characterized by childhood-onset hair loss, morphea, and probable autosomal dominant inheritance.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
4 citations
,
January 2019 in “Obstetrics & gynecology science” This case study reported that a 51-year-old woman with hirsutism and voice thickening had a Leydig cell tumor detected by PET-CT, which normalized hormone levels and resolved symptoms after surgical removal.
3 citations
,
January 2016 in “Journal of cosmetology & trichology” This report suggests that correcting nutritional deficiencies may improve hair quality in patients with Monilethrix and similar hair shaft disorders, though it is not a cure.
2 citations
,
January 2019 in “Springer eBooks” This review discusses segmental vitiligo as part of the vitiligo clinical spectrum and highlights its role as a model for studying repigmentation, but reports no new clinical results.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
2 citations
,
July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
2 citations
,
January 1998 in “Dermatology” Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.