24 citations
,
December 2019 in “PLoS ONE” The BHBS is a valid tool to study cultural norms and breast cancer risk in Black women.
2 citations
,
January 2016 in “Experimental Dermatology” HS needs personalized treatment plans and more research.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
June 2024 in “British Journal of Dermatology” The grand round helps improve diagnoses and suggests new treatments for hair disorders.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
4 citations
,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
December 1997 in “Journal of The European Academy of Dermatology and Venereology” Most women with excessive hair growth have a hormonal cause.
1 citations
,
February 2014 in “Italian journal of medicine” An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
3 citations
,
May 2018 in “Experimental Dermatology” Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
9 citations
,
April 2024 in “Cureus” Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
18 citations
,
December 2010 in “Transplantation Proceedings” Black hairy tongue can be an early sign of graft-versus-host disease after stem cell transplants.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
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.
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.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
1 citations
,
July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
2 citations
,
March 2018 in “INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY” A pregnant woman with Cushing Syndrome got worse and sadly passed away.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
78 citations
,
October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
October 2025 in “Indian Journal of Physiology and Pharmacology” Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.