23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
6 citations
,
January 2000 in “Dermatology” A girl's severely tangled hair couldn't be fixed and had to be cut due to a rare condition called plica neuropathica.
January 2020 in “Medpulse International Journal of Medicine” Nail and hair changes are common in severe chronic kidney disease and should be treated to improve patients' quality of life.
October 2024 in “Skin Research and Technology” Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
December 2025 in “Portuguese Journal of Dermatology and Venereology” Erosive palmoplantar lichen planus in North-East India mainly affects the feet and often involves nails, with unique inflammatory skin changes.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
29 citations
,
August 2011 in “PubMed” Hair and nail proteins, mainly keratins, are crucial for structure and can indicate health issues.
6 citations
,
December 2011 in “Clinical and Experimental Dermatology” A woman developed rare, unexplained curly hair on her scalp and eyelashes.
8 citations
,
August 2019 in “ACR Open Rheumatology” Defective repair processes may cause immune activation and inflammation in psoriatic disease.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
3 citations
,
April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
6 citations
,
May 2024 in “Developmental Biology”
10 citations
,
June 2011 in “Archives of Dermatology” Finasteride caused blisters on hands and feet.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
November 2018 in “Journal of dermatology & cosmetology” The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
6 citations
,
January 2018 in “Dermato-endocrinology” Darkened knuckles can be an early sign of insulin resistance.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
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.
April 2018 in “Dermatologic Surgery”
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
2 citations
,
August 2022 in “Cutis” COVID-19 vaccination may cause temporary nail changes, but they're not serious.