March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
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.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
3 citations
,
April 2022 in “Cutis” CCCA is a common, scarring hair loss in Black women that needs early detection.
9 citations
,
February 2023 in “Medicine” Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
19 citations
,
August 2011 in “Archives of Dermatology” CCCA is a common scarring hair loss in African descent women, possibly linked to genetics, hair care practices, and health issues like diabetes.
25 citations
,
January 2019 in “Annals of Dermatology” Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
64 citations
,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
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.
29 citations
,
December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
65 citations
,
March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
2 citations
,
May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
3 citations
,
February 2022 in “Journal of the American Academy of Dermatology” Black patients with a specific type of hair loss have a much higher chance of lacking enough vitamin D.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.