4 citations,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
3 citations,
March 2005 in “Journal of the American Academy of Dermatology” The lotion and shampoo effectively treated scalp seborrheic dermatitis.
3 citations,
October 1979 in “Laboratory animals” Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.
2 citations,
May 2021 in “Case reports in dermatological medicine” A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
2 citations,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
2 citations,
September 2019 in “Acta Cardiologica” Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
2 citations,
February 2009 in “Journal of the American Academy of Dermatology” Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
1 citations,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
1 citations,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
1 citations,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
October 2022 in “Veterinária notícias/Veterinária Notícias” A 5-year-old Akita with a rare skin condition improved significantly after treatment.
January 2021 in “International journal of medical science and health research” A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
August 2018 in “Journal of the American Academy of Dermatology” Patients often experience long-lasting changes to their hair after stem cell transplants.
Hormones, especially testosterone and DHT, are key for penis development and function, and testosterone therapy may help with erectile dysfunction in those with low levels.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.