January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
6 citations
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January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
20 citations
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April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
30 citations
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
20 citations
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October 2005 in “Archives of Dermatological Research”
1 citations
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January 2021 in “Dermatology Review” A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
11 citations
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June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
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.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.