October 2019 in “Research Square (Research Square)” The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
25 citations
,
February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
8 citations
,
July 2014 in “American Journal of Dermatopathology” Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
1 citations
,
December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
37 citations
,
March 2005 in “Journal of Paediatrics and Child Health” A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
26 citations
,
August 1971 in “Journal of Morphology” Lizards can regrow their tail scales with the same structure, distribution, and gender-specific features as the original ones, and this unique ability is not seen in adult mammals.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
October 1995 in “Pediatric Research”
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
23 citations
,
July 1994 in “Journal of Dermatological Science” Pili torti hair twists due to uneven outer root sheath cell development.