November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
4 citations
,
October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
2 citations
,
October 2001 in “Mycoses” A cat had a rare fungal infection caused by Microsporum gypseum.
1 citations
,
January 2015 in “Bulletin of the Russian Academy of Sciences Physics” Hair tissue can help monitor environmental and public health risks.
June 2026 in “Frontiers in Immunology” JAK inhibitors effectively treat inflammatory skin diseases by targeting specific cytokine signals.
April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
56 citations
,
March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
47 citations
,
August 2000 in “Endocrine Reviews” The document concludes that more research is needed to understand excessive hair growth in women with normal hormone levels and regular ovulation.
42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
17 citations
,
January 2009 in “Nippon Ishinkin Gakkai Zasshi” A 10-year-old boy recovered from a scalp infection caused by a fungus after treatment with itraconazole.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
15 citations
,
December 2000 in “Der Hautarzt” Idiopathic chronic telogen effluvium in women causes sudden hair loss without a known cause, often linked to emotional distress.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
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.
5 citations
,
November 2020 in “EBioMedicine” Disruptions in sleep-wake cycles can cause health problems like mental, metabolic, and heart diseases, and cancer.
4 citations
,
March 2006 in “Journal of dermatology” A Chinese-Japanese boy had a rare fungal infection on his scalp and skin, likely caught in China.
3 citations
,
October 2018 in “Journal of Mind and Medical Sciences” Biological therapy boosts the immune system to effectively fight melanoma.
2 citations
,
September 2011 in “Pediatric Dermatology” The document suggests there might be a link between Kawasaki Disease and Alopecia Areata that needs more research.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.