April 2012 in “Informa Healthcare eBooks” Fibrosing alopecia in a pattern distribution is a unique hair loss condition with inflammation and scarring, resembling but distinct from common balding.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
5 citations
,
February 2016 in “Sultan Qaboos University medical journal” The patient had a severe itchy rash and hair loss in the armpits.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
August 2020 in “Acta medica Iranica” Bumps on the face may be an early sign of a type of hair loss called frontal fibrosing alopecia.
CRH causes hair loss by reducing cell survival in hair follicles.
28 citations
,
August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
9 citations
,
April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
19 citations
,
July 2022 in “PNAS Nexus” Similar treatments might work for different types of scarring hair loss.
37 citations
,
September 2005 in “Australasian Journal of Dermatology” A man with scalp and neck skin issues improved after a year of oral isotretinoin.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
November 2023 in “Indian Journal of Dermatology” The study found that Frontal Fibrosing Alopecia in North-East India mainly affects middle-aged women and is often associated with lichen planus pigmentosus.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
5 citations
,
February 2015 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” OCT can non-invasively diagnose follicular keratosis and other hair follicle disorders.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
January 2024 in “Indian Journal of Plastic Surgery/Indian journal of plastic surgery” The flap advancement technique effectively treats severe scalp skin conditions, preserving hair and improving appearance.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
44 citations
,
September 2016 in “American Journal Of Pathology” Neural crest-derived progenitor cells in the cornea could help treat corneal issues without transplants.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
11 citations
,
January 2009 in “Indian journal of dermatology, venereology, and leprology” DCPA is a chronic skin condition affecting the lower limbs, mainly in men, with unclear causes and treatments that often don't work well.
15 citations
,
January 2015 in “Skin Appendage Disorders” Increased scalp sweating in frontal fibrosing alopecia may be linked to local skin inflammation.