5 citations
,
October 2021 in “Journal of the American Academy of Dermatology” PRAME helps distinguish between benign and malignant skin cells in most cases.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
June 2024 in “Dermatopathology” A rare type of skin cancer on the scalp can be mistaken for hair loss, causing delayed diagnosis and severe damage.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
12 citations
,
September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
November 2024 in “Journal of Investigative Dermatology” 48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
4 citations
,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
21 citations
,
November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
August 2025 in “International Journal of Cancer” Childhood and adult height, and early immune-related hospitalizations increase testicular cancer risk, while baldness, larger families, and sports reduce it.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
4 citations
,
January 2014 in “The Journal of urology/The journal of urology” Kidney cancer cells without folliculin are more sensitive to radiation due to increased self-eating cell death.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
30 citations
,
February 1994 in “Journal of Cutaneous Pathology” A woman's hair loss was initially mistaken for a common hair loss condition but was later found to be caused by breast cancer cells in her scalp.
4 citations
,
January 2019 in “Dermatologic Therapy” Scalp basal cell carcinoma may be more aggressive and harder to treat than other types, requiring special attention and further research.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.