7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
September 1997 in “Journal of The European Academy of Dermatology and Venereology” Skin lymphoproliferative disorders are hard to diagnose and often linked to systemic diseases, but most have a good prognosis with accurate diagnosis.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
4 citations
,
August 1991 in “The Journal of Dermatology” The tumor on the man's nose was a rare type called pedunculated follicular hamartoma.
6 citations
,
January 2014 in “American Journal of Medical Case Reports” Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
November 2024 in “Skin Appendage Disorders” Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
April 2025 in “BMC Urology” Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
9 citations
,
January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
December 2024 in “Frontiers in Pediatrics” Baricitinib improved platelet counts and alopecia in a 16-year-old with chronic immune thrombocytopenia.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
13 citations
,
January 2020 in “Acta Dermato Venereologica” Ruxolitinib treatment led to unexpected hair regrowth in a patient with alopecia universalis.
3 citations
,
January 2022 in “Modern Rheumatology Case Reports” Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
1 citations
,
January 2018 in “Pediatrics in review” A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
2 citations
,
January 2023 in “Annals of Dermatology” A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
28 citations
,
May 2012 in “Experimental Dermatology” April 2018 in “Veterinary Pathology” Tigers had a skin condition causing hair loss and inflammation, but the cause is unknown and treatment didn't work.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
July 2025 in “Russian Journal of Clinical Dermatology and Venereology” Tofacitinib may help hair regrowth in familial alopecia areata with immune issues, but more research is needed.
11 citations
,
December 2011 in “The Journal of Dermatology”