4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
6 citations
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October 2016 in “Pediatric Dermatology” A 6-year-old girl had a rare allergic reaction to a hair regrowth treatment.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
22 citations
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May 2005 in “Journal of the European Academy of Dermatology and Venereology” People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
February 2024 in “International Journal of Dermatology” Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
30 citations
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July 2016 in “Psychoneuroendocrinology” 28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
6 citations
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April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
54 citations
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February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
2 citations
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August 2002 in “PubMed”
5 citations
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April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
3 citations
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February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
12 citations
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January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
21 citations
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August 2017 in “Journal of veterinary internal medicine” Combining amino acid and stem cell therapy may help manage hepatocutaneous syndrome in dogs.
January 2025 in “Case Reports in Medicine” Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
695 citations
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October 2011 in “Cell stem cell” Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
142 citations
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August 2015 in “Arthritis & Rheumatology” Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
32 citations
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February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
10 citations
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May 1991 in “Journal of the American Academy of Dermatology” Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
2 citations
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May 2021 in “Case reports in dermatological medicine” A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.