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.
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.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
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.
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.
February 2010 in “Journal of The American Academy of Dermatology” Mimicking growth factors in a topical solution can prolong hair growth phase and reduce hair loss without side effects.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
February 2010 in “Journal of The American Academy of Dermatology” A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
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.
February 2009 in “Journal of the American Academy of Dermatology” Transverse sections are better for non-scarring hair loss, vertical sections are better for lichen planopilaris, and either method works for other scarring hair loss types.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
81 citations,
December 2009 in “Journal of Dermatological Science” Fat tissue stem cells may help increase hair growth.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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.
6 citations,
January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
3 citations,
July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
4809 citations,
January 2004 in “Fertility and Sterility” The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.
4025 citations,
December 2003 in “Human Reproduction” The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.