5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
April 2023 in “Journal of Investigative Dermatology” The research shows that skin cancer likely originates from hair follicles and that certain cell populations expand to promote skin cancer growth.
29 citations
,
February 1989 in “Journal of Cutaneous Pathology” A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
10 citations
,
May 2009 in “Journal of The American Academy of Dermatology” Technique effectively reconstructs large scalp defects with minimal hair loss and visible scarring.
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.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
April 2026 in “American Journal of Dermatopathology” Increased blood vessel growth in lichen planopilaris may signal active disease needing aggressive treatment.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
April 2016 in “Actas Dermo-Sifiliográficas” The document concludes that a unique target-like hair regrowth pattern in alopecia areata may be more common than thought and should be properly identified.
February 2023 in “Journal of the European Academy of Dermatology and Venereology”
1 citations
,
January 2014 in “Health Renaissance” Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
158 citations
,
February 2000 in “Archives of dermatology” Some people with pattern hair loss may also have scalp inflammation and scarring similar to lichen planopilaris.
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
,
January 1999 in “Dermatology” 4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
22 citations
,
May 2002 in “Skin Research and Technology” CE-PTG detects early hair follicle issues in balding areas, helping measure male hair loss.
1 citations
,
January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
32 citations
,
August 1982 in “Journal of the American Academy of Dermatology” GLPLS and LPP are variants of lichen planus.
35 citations
,
November 2019 in “Journal of the American Academy of Dermatology” A new variant of lichen planopilaris causing diffuse hair thinning was identified.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
December 2020 in “Skin appendage disorders” A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
21 citations
,
November 2017 in “Scientific Reports” Different human hair follicle stem cells grow at different rates and respond differently to a baldness-related compound.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.