MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
April 2024 in “Anais Brasileiros de Dermatologia”
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
January 2005 in “Zhonghua chuangshang guke zazhi” Human hair keratin is a promising material for nerve repair.
January 2015 in “Elsevier eBooks” Stem cells show promise for nerve injury treatment, but more research is needed before human use.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
1 citations
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January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
9 citations
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September 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Certain skin symptoms can indicate underlying body-wide illnesses.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
March 2024 in “European Journal of Neuroscience” Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.
46 citations
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September 2007 in “Journal of Investigative Dermatology” 19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
February 2024 in “Curēus” Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
6 citations
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February 1989 in “PubMed” Hair glycation can indicate long-term blood sugar levels and diabetic nerve issues.
1 citations
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October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
1 citations
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July 2025 in “Dermatology Reports” Syphilis treatment resolved hair loss and eye symptoms, highlighting its importance in diagnosing unusual alopecia.
Sensory neuron and Merkel-cell changes in the skin happen independently during normal skin maintenance.
1 citations
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March 1991 in “PubMed” Naevoid bundle hair is an unusual hair growth pattern where multiple hairs fuse together.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
4 citations
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March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
11 citations
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December 2010 in “Archives of Dermatology” A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
January 2019 in “Current research in diabetes & obesity journal” A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.
November 2013 in “John Wiley & Sons, Ltd eBooks” Skin symptoms can indicate endocrine disorders and have various treatments.