April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
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.
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 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
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.
January 2013 in “International journal of trichology” Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
July 1997 in “Journal of Cutaneous Medicine and Surgery” Finasteride significantly increases scalp hair and prevents hair loss in young and middle-aged men.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
86 citations,
May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
81 citations,
December 2009 in “Journal of Dermatological Science” Fat tissue stem cells may help increase hair growth.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
50 citations,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
36 citations,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
25 citations,
January 2013 in “International Journal of Trichology” Premature balding in some men may be linked to altered hormones, but it's not the male equivalent to polycystic ovary syndrome or metabolic syndrome.
14 citations,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
14 citations,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
8 citations,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
8 citations,
December 1981 in “Journal of The American Academy of Dermatology” The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.