19 citations
,
January 2001 in “Internal Medicine” Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
5 citations
,
January 2016 in “Skin appendage disorders” A rare skin condition called linear lichen planopilaris caused itchy red bumps and hair loss on a man's face.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
372 citations
,
December 2004 in “Nature Genetics”
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
6 citations
,
September 2023 in “Experimental physiology” A special receptor in sensory nerve endings helps control how they respond to stretching.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
March 2021 in “Revista da Associação Médica Brasileira” 23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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.
16 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Managing frontal fibrosing alopecia and lichen planus pigmentosus is challenging due to resistant hair loss and skin discoloration.
10 citations
,
November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
194 citations
,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
29 citations
,
September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
January 2025 in “International Journal of Scientific Research” 12.5% of women with PCOS experience moderate hair loss, highlighting the need for early detection and management.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
October 2025 in “EMJ Dermatology” GLP-1RA therapy may increase the risk of hair loss.
9 citations
,
January 2007 in “Gynecological Endocrinology” A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
3 citations
,
March 2021 in “Cureus” A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.