31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
21 citations
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January 2008 in “Journal of Pediatric Endocrinology and Metabolism” Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
2 citations
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January 2023 in “Skin Appendage Disorders” Frontal fibrosing alopecia may run in families.
292 citations
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April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
179 citations
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July 2005 in “Human Reproduction Update” PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
71 citations
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October 2013 in “Experimental Dermatology” Vitiligo and alopecia areata may have similar causes despite their differences.
57 citations
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February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
33 citations
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November 1999 in “The Veterinary clinics of North America. Small animal practice/Veterinary clinics of North America. Small animal practice” Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.
17 citations
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August 1983 in “Australasian Journal of Dermatology” The review says skin conditions with sterile pustules need more research for better treatments.
9 citations
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May 2015 in “Cardiology Clinics” The conclusion is that managing cholesterol is important for women, especially during pregnancy, breastfeeding, and with PCOS, and involves regular screening and careful treatment choices.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
5 citations
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September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
3 citations
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June 2024 in “Journal of Neuroendocrinology” Many women with PCOS have abnormal cholesterol levels, needing careful management.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
1 citations
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February 2005 in “The Lancet” Hair loss may be linked to cardiovascular health problems.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
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.
24 citations
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May 2012 in “International Journal of Dermatology” The document concludes that eyelash trichomegaly, which is the abnormal growth of eyelashes, can be present from birth, caused by diseases, or result from certain medications.
May 2025 in “International Journal of Trichology” Laser hair removal might help prevent trichoepithelioma lesions, but more testing is needed.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.