8 citations
,
November 2012 in “Journal of Endocrinological Investigation” Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
5 citations
,
September 2011 in “Pediatric Dermatology” Two young siblings experienced hair loss without hormone issues or other skin problems.
40 citations
,
May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
13 citations
,
September 1989 in “International Journal of Dermatology” Carbamazepine may cause reversible nail detachment.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
1 citations
,
December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
1 citations
,
September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
175 citations
,
August 1997 in “Nature Genetics” January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
June 2023 in “International Journal of Dermatology” Lichen planus pigmentosus mainly affects middle-aged women with darker skin, is underreported, and is hard to treat.
August 2022 in “Case reports in medicine” Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
September 2025 in “Ukrainian Journal of Dermatology Venerology Cosmetology” Early diagnosis and treatment can stop hair loss and prevent scalp damage in pseudopelade of Brocq.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
3 citations
,
July 2013 in “Journal of Cutaneous Pathology” A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
April 2018 in “African journal of rheumatology” A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.