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.
5 citations
,
February 1977 in “Archives of Dermatology” The study suggests that complement activation, not immunoglobulins, may be important in erythema nodosum leprosum.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
April 2023 in “Journal of Investigative Dermatology” People with all types of psoriasis are more likely to have autoimmune diseases than those without psoriasis.
2 citations
,
November 2011 in “Pediatric dermatology”
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
2 citations
,
October 2021 in “Journal of skin and stem cell” Nail disorders are often related to jobs like housework and manual labor, with cosmetic issues being the main concern, and are commonly caused by skin diseases like psoriasis.
8 citations
,
April 2022 in “International Journal of Environmental Research and Public Health” Most children with epilepsy on antiepileptic drugs experience side effects, especially those on multiple drugs, but these drugs help reduce seizures.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
2 citations
,
May 2023 in “Veterinary Pathology” Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
Understanding genetics is crucial for treating heart and skin diseases.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
39 citations
,
February 2011 in “American Journal of Dermatopathology” Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
1 citations
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July 2021 in “Clinical Cosmetic and Investigational Dermatology” Syphilis should be considered if PLEVA-like symptoms don't improve with treatment.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
15 citations
,
December 2015 in “PLoS ONE” Fibroblasts can be mistaken for neural cells, so functional validation is needed.
November 2024 in “Rheumatology Advances in Practice” Timely diagnosis of SLE is crucial due to symptom overlap with fibromyalgia.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
July 2003 in “British Journal of Dermatology” Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” Genetic differences affect COVID-19 severity and treatment effectiveness.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.