16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
April 2015 in “Archives of disease in childhood” A chubby child can still be malnourished.
2 citations
,
August 2015 in “Journal of dermatology” A possible link exists between minimal change nephrotic syndrome and complete hair loss.
1 citations
,
April 2025 in “Romanian Journal of Ophthalmology” Minoxidil might cause eye issues, so early detection is important.
6 citations
,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
16 citations
,
May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
June 2017 in “The Medical Journal of Australia” The man's rash, hair loss, and vision issues were due to syphilis, not CMV.
15 citations
,
March 2023 in “BioMed” MIS-A is a severe complication after COVID-19, mostly in young black males, needing more research and awareness.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
31 citations
,
September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
86 citations
,
May 2005 in “Seminars in Arthritis and Rheumatism” Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
April 2026 in “Metabolites” Chronic skin diseases and metabolic syndrome are linked by shared inflammation pathways.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.