42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
32 citations
,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
1 citations
,
December 1978 in “British journal of dermatology/British journal of dermatology, Supplement” Hormonal imbalances in congenital adrenal hyperplasia cause acne.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
May 2026 in “International Journal of Drug Delivery Technology” Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
5 citations
,
December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
Early recognition and zinc treatment can effectively improve acrodermatitis symptoms.
249 citations
,
May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
72 citations
,
July 2008 in “Dermatologic Therapy” CCCA is a scarring hair loss condition mainly in African descent women, possibly caused by genetics and hairstyling, treated with gentle hair care and medications.
June 2006 in “Annales de Dermatologie et de Vénéréologie” Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
59 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
5 citations
,
March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
3 citations
,
October 2024 in “The Journal of Clinical Endocrinology & Metabolism” Potential androgen excess signs vary by demographics and health, needing inclusive evaluation.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
11 citations
,
January 2013 in “Indian Dermatology Online Journal” CCCA is a common, progressive hair loss condition that may not always be linked to hair care practices and requires a biopsy for diagnosis.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
2 citations
,
June 2017 in “Pediatric Dermatology” A critically ill boy experienced hair loss likely due to the stress of his medical treatments, but his hair regrew completely in 1.5 months.
January 2026 in “Clinical and Experimental Dermatology” Ruxolitinib helped a patient with alopecia areata regrow hair.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
17 citations
,
September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.