29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
August 2024 in “Dermatology and Therapy” Vorasidenib can cause unusual hair growth.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
July 2025 in “Dermatology Practical & Conceptual” Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
5 citations
,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
1 citations
,
February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
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.
4 citations
,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
1 citations
,
January 2018 in “Journal of SAFOMS” A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
October 2022 in “Journal of Pediatric and Adolescent Gynecology” A special blood test helped find the overactive ovary in a teen with PCOS, and removing that ovary improved her condition.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
41 citations
,
June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
9 citations
,
November 2015 in “Gynecological Endocrinology” Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
2 citations
,
September 2021 in “JCPSP. Journal of the College of Physicians & Surgeons Pakistan” Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
21 citations
,
June 2010 in “Anais Brasileiros De Dermatologia” The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.