26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
11 citations
,
January 2022 in “Experimental Dermatology” Severe CCCA may be biologically and clinically different from milder forms.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
64 citations
,
June 2014 in “Journal of The American Academy of Dermatology” Researchers found a white halo around hair in most patients with a specific type of hair loss, which helps in early diagnosis and treatment.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.