December 2021 in “International journal of research - granthaalayah” A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
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.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
January 2005 in “Journal of Cutaneous Pathology” A new benign nail tumor called onychoblastoma was identified.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
April 2016 in “Journal of The American Academy of Dermatology” A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
14 citations
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June 2019 in “BMC infectious diseases” A rare fungal infection on a child's scalp was successfully treated with antifungal medication.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
August 2025 in “Cermin Dunia Kedokteran” HMPV causes respiratory infections, mainly managed with supportive care, and lacks a vaccine or specific treatment.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
August 2025 in “International Journal of Clinical Dermatology” A new skin cancer can develop where shingles once occurred.
4 citations
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April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
July 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Knuckle darkening can be an early sign of vitamin B12 deficiency.
February 2010 in “Journal of The American Academy of Dermatology” NB-002 is a promising new topical treatment for fungal nail infections, showing better results than a non-medicated option.
34 citations
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December 2011 in “The Journal of Dermatology” A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
January 1994 in “Memorial University Research Repository (Memorial University)” Oleosomes help cell growth in Sesbania rostrata nodules but don't aid nitrogen fixation.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
July 2023 in “Indian Journal of Sexually Transmitted Diseases and AIDS” "Moth-eaten alopecia" can be a sign of secondary syphilis, treatable with penicillin.
3 citations
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December 2024 in “Stem Cell Reports” Low fucosylation boosts stem cell growth in the eye.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
October 2014 in “Microscopy” The method using ionic liquid improves observation of cell structures with less damage.
October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.