September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
November 2018 in “Skin appendage disorders” The document concludes that a woman has both Frontal Fibrosing Alopecia and Lichen Simplex Chronicus, a previously unreported combination of conditions.
3 citations
,
August 2019 in “International Journal of Dermatology” Dermoscopy is useful for diagnosing lichen planopilaris and certain features may relate to disease duration, age, and gender.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
1 citations
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
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.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
10 citations
,
July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
1 citations
,
April 2016 in “Journal of The American Academy of Dermatology” A man developed a rare skin condition and drug-induced lupus, highlighting the need for biopsy in diagnosing skin issues caused by sunlight.
October 2021 in “European journal of cancer” Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
Pseudopelade is likely an independent disease due to its distinct features.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
June 2022 in “Authorea (Authorea)” A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.
22 citations
,
April 2013 in “International Journal of Dermatology” Frontal fibrosing alopecia can occur with lichen planus pigmentosus, needing careful diagnosis and treatment.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA and lichen planopilaris have similar histological features, making them hard to distinguish.
Defective nuclear transport may cause gene expression changes in Progeria.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
February 2025 in “JEADV Clinical Practice” A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
Brunsting-Perry pemphigoid can cause scarring hair loss and may be underdiagnosed.
December 2010 in “Elsevier eBooks” Systemic lupus erythematosus is an autoimmune disease causing diverse symptoms and major organ involvement.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
10 citations
,
June 2020 in “Journal of Cosmetic Dermatology” Frontal fibrosing alopecia may be linked to genital Lichen sclerosus through an autoimmune process.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.