80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
5 citations
,
April 2023 in “Life” CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
44 citations
,
May 1980 in “Archives of Dermatology” "20-nail dystrophy" can have multiple causes.
25 citations
,
March 2013 in “British Journal of Dermatology” Woman has discoid lupus, frontal fibrosing, and androgenetic alopecia.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
4 citations
,
May 2021 in “Biomedicines” Targeting the protein Caveolin-1 might help treat a type of scarring hair loss called Frontal Fibrosing Alopecia.
April 2025 in “International Journal of Dermatology” Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.
1 citations
,
July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
155 citations
,
September 2008 in “British journal of dermatology/British journal of dermatology, Supplement” FFA is more common in postmenopausal women, can affect younger women, and may stabilize over time.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
2 citations
,
April 2023 in “American Journal of Dermatopathology” CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
April 2023 in “World Journal Of Advanced Research and Reviews” Cosmetic products or emotional factors might contribute to Frontal Fibrosing Alopecia, and trichoscopy is useful for diagnosis.
4 citations
,
November 2020 in “Case reports in dermatology” A rare skin condition causes red, dark, bumpy facial lesions.
1 citations
,
January 2019 in “Acta dermato-venereologica” The woman's skin and hair symptoms were confirmed as frontal fibrosing alopecia, and while facial papules are common in such cases, there's no effective local treatment, but systemic treatments can help.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Tight hairstyles can cause a rare scalp condition with thick skin folds.
December 2016 in “Anales del sistema sanitario de Navarra” Frontal fibrosing alopecia is increasing, especially in postmenopausal women, and treatment with finasteride can improve it.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.