19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
21 citations
,
October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
34 citations
,
December 1984 in “Journal of Cutaneous Pathology” Monilethrix hair issues are due to problems in the hair's internodes.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
June 2023 in “Dermatology reports” The link between pemphigus and the patient's scarring hair loss is still unclear.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
1 citations
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May 2015 in “Journal of The American Academy of Dermatology” Lichen planus pigmentosus and fibrosing frontal alopecia in Colombia are likely different stages of the same disease.
9 citations
,
September 2022 in “Frontiers in Physics” The technique accurately identifies and evaluates hair follicle structures in skin.
7 citations
,
February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
January 2006 in “Chinese Journal of Dermatology” Amelanotic melanocytes from hair follicles are immature and likely don't transfer melanosomes to keratinocytes.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
14 citations
,
January 2005 in “Pediatric Dermatology” UVA1-light therapy successfully treated a child's skin condition, mycosis fungoides.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
18 citations
,
January 2013 in “Dermatology Online Journal” Trichofolliculoma is a rare skin bump on the face or scalp.
3 citations
,
July 2024 in “Dermatology and Therapy” Hair shaft abnormalities can help distinguish mycosis fungoides from other skin conditions.
January 2026 in “Journal of Clinical and Investigative Dermatology” A father and son in Yemen have a genetic condition causing hair loss and nail problems.
January 2016 in “Experimental Dermatology” New findings suggest potential treatments for melanoma, hyperpigmentation, hair defects, and multiple sclerosis, and show skin microbiome changes don't cause atopic dermatitis.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
Pilomatricoma is a rare, harmless skin lump that needs accurate diagnosis and timely treatment.
5 citations
,
June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
18 citations
,
March 2015 in “Journal of Investigative Dermatology” Silencing certain circadian clock genes increases skin pigmentation.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
November 2023 in “Journal of the American Academy of Dermatology” Skin of color can spontaneously repigment after a phenol-croton oil chemical peel.
December 2024 in “PubMed” A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
6 citations
,
August 1993 in “Archives of Dermatology” The study found that polymorphous light eruption varies among patients and can be distinguished from benign summer light eruption by the time it takes for symptoms to appear after sun exposure.