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.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
February 2023 in “Cosmoderma” January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
56 citations
,
January 2004 in “Journal of the American Academy of Dermatology” Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
2 citations
,
January 1987 in “PubMed” Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
4 citations
,
July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
October 2023 in “Journal of the Endocrine Society” A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
64 citations
,
May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
April 2023 in “Authorea (Authorea)” A young woman with a rare skin cancer was diagnosed late because her symptoms were unusual for the disease.
8 citations
,
January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
73 citations
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January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
6 citations
,
October 2014 in “PubMed” Autoimmune diseases like lupus, dermatomyositis, and scleroderma can cause hair loss and other hair problems, and treatments for these diseases might also affect hair.
2 citations
,
August 2022 in “Federal Practitioner” A severe medication reaction required long treatment and led to hair loss and thyroid issues.
1 citations
,
January 2015 in “Acta Dermato Venereologica” Autoimmune myopathy may be linked to hair loss and skin depigmentation.
19 citations
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
1 citations
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June 2014 in “Serbian Journal of Dermatology and Venereology” A woman with discoid lupus improved with treatment after being misdiagnosed with a different hair loss condition.
July 2024 in “GLOBAL JOURNAL FOR RESEARCH ANALYSIS” A 24-year-old man developed both alopecia areata universalis and type 1 diabetes at the same time, which is rare.
January 2015 in “International Journal of Research in Medical Sciences” A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.