16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
January 2024 in “Pediatrics International” A 6-year-old boy with autism improved his thyroid function and growth after addressing iodine deficiency caused by picky eating, but his psychiatric symptoms and picky eating continued.
November 2022 in “Gene Cell and Tissue” Zinc deficiency might affect vitamin B12 levels.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
1 citations
,
November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
1 citations
,
January 2019 in “Jordan Medical Journal” Zinc deficiency in children can cause skin issues and is often overlooked.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
21 citations
,
June 1991 in “Journal of Inherited Metabolic Disease” Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
54 citations
,
June 2001 in “The Indian Journal of Pediatrics” Lower hair zinc levels may be linked to Neural Tube Defects.
14 citations
,
January 2014 in “Dermatology Research and Practice” Many infants in Northern Ethiopia have zinc deficiency.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
11 citations
,
January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
72 citations
,
October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
4 citations
,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
June 2026 in “Quality in Sport” CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
March 2021 in “Indian Journal of Case Reports” A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
7 citations
,
May 2012 in “Journal of veterinary diagnostic investigation” Some young Angus cattle had skin problems due to not enough vitamin A, which got better after they were given more vitamin A.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.