14 citations
,
September 2015 in “Ophthalmic plastic and reconstructive surgery” Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
24 citations
,
September 2007 in “Veterinary Dermatology” A goat had skin issues caused by Malassezia slooffiae, marking the first known case in goats.
1 citations
,
April 2010 in “Cancer Research” WYE-130600 may cause skin thickening and irritation.
11 citations
,
July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
January 2024 in “Asian Journal of Medical Sciences” Dermoscopes help tell FPHL apart from other hair loss types and can detect it early by identifying specific patterns.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” MPZL3 protein affects hair growth cycles and could help manage hair loss.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
A 73-year-old woman's unusual hair loss and growth led to the discovery of a rare condition causing too much testosterone, which improved after her ovaries were removed.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
1 citations
,
January 2020 in “Bioscientia medicina” Female pattern hair loss is common, worsens with age, and requires long-term treatment to manage.
22 citations
,
March 2007 in “European journal of pediatrics” Certain types of mucopolysaccharidoses cause significant hair abnormalities.
34 citations
,
June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
1 citations
,
January 2014 in “Indian journal of dermatology, venereology, and leprology” Papular mucinosis can cause eyebrow hair loss, but treatment can lead to regrowth.
May 2023 in “Research Square (Research Square)” Blocking the HEDGEHOG-GLI1 pathway can reduce keloid growth and may be a potential treatment.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
14 citations
,
April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
9 citations
,
August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
2 citations
,
February 2023 in “Anais Brasileiros de Dermatologia” 4 citations
,
September 1992 in “Journal of Small Animal Practice” A French bulldog had sparse hair due to a condition similar to that seen in Chinese crested dogs.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
37 citations
,
August 2012 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” A simplified scoring system can effectively diagnose hirsutism in Chinese women of reproductive age.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.