March 2024 in “Veterinary sciences” Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
20 citations
,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
1 citations
,
March 2024 in “PubMed” Surgery with a carbon-dioxide laser successfully treated a Labrador's tongue condition, but some hair regrew.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
32 citations
,
January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
October 2025 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
28 citations
,
May 2012 in “Experimental Dermatology”
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
50 citations
,
January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
13 citations
,
June 2011 in “PubMed” The patient improved significantly after treatment, with only one small scar remaining.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
2 citations
,
December 2019 in “The Open Dermatology Journal” Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
2 citations
,
March 2015 in “Hepatitis Monthly” A woman's hair loss during Hepatitis C treatment with PEG-INF-a-2a and Ribavirin was reversible after stopping the medication.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
4 citations
,
May 2018 in “Journal of Neuro-Ophthalmology” New treatments for relapsing multiple sclerosis are more effective and convenient but have higher risks of serious side effects.
1 citations
,
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.
June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
December 1972 in “Archives of Dermatology” The girl has an inflammatory type of scarring hair loss.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” The gene causing hair loss and heart issues in rough coat mice is still unknown.
18 citations
,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.