2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
60 citations
,
October 2014 in “Journal of the American Academy of Dermatology” Dermatologists play a key role in treating skin symptoms of PCOS like dark patches, excess hair, acne, and hair loss.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
2 citations
,
July 2017 in “Oman medical journal” A man with a rare adrenal cancer showed unusual symptoms and died four months after diagnosis.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
9 citations
,
November 2015 in “Gynecological Endocrinology” Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
1 citations
,
October 2024 in “Journal of Nepal Paediatric Society” Stopping Cyclosporine A led to hair regrowth in a child with alopecia.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
20 citations
,
December 1995 in “Veterinary Dermatology” Yorkshire Terriers with Colour Dilution Alopecia have reduced melanin and hair structure issues.
14 citations
,
June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
February 2010 in “Journal of The American Academy of Dermatology” A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
December 2022 in “BioScientific review” PCOS is a hormonal disorder in women that can cause infertility and increases the risk of heart and metabolic issues.
35 citations
,
June 1997 in “Annals of the New York Academy of Sciences” Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.
23 citations
,
February 2003 in “British Journal of Dermatology” A rare type of skin lymphoma was identified, affecting hair follicles and sweat glands.
January 2025 in “International Journal of Gynaecology Research” Adolescent females with PCOS have higher serum cystatin C levels, indicating potential metabolic and cardiovascular issues.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
1 citations
,
November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
December 2019 in “Case Medical Research” April 2021 in “The journal of heart and lung transplantation/The Journal of heart and lung transplantation” Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
3 citations
,
October 2010 in “Journal of Experimental & Clinical Medicine” Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.