15 citations
,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
2 citations
,
May 2019 in “Journal of the American Academy of Dermatology” Facial hidradenitis suppurativa can be mistaken for acne but requires different treatment.
60 citations
,
May 2011 in “Endocrinology and Metabolism Clinics of North America” Polycystic Ovary Syndrome is linked to higher risk of hypertension and heart disease.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
October 2021 in “Dermatology practical & conceptual” A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
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.
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
58 citations
,
November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
11 citations
,
October 2003 in “Postgraduate Medical Journal” Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
61 citations
,
April 2021 in “Frontiers in Medicine” Hidradenitis suppurativa severely impacts quality of life, especially with severe symptoms and certain comorbidities, and current treatments don't significantly improve it.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
7 citations
,
December 2014 in “Australasian journal of dermatology” Insulin resistance is not more common in idiopathic hirsutism patients than in healthy individuals.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.