June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
38 citations
,
June 2005 in “International Journal of Dermatology” A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
Controlling Tslp can improve health in AEC syndrome patients.
3 citations
,
July 2021 in “Cutis” Panniculitis in dermatomyositis is rare, more common in women, and may persist despite treatment.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
December 2016 in “Asian Pacific journal of cancer biology” PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
4 citations
,
March 2020 in “Turkish Journal of Medical Sciences” There may be a link between Helicobacter pylori infection and the skin condition pityriasis versicolor.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
1 citations
,
January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
1 citations
,
February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
29 citations
,
November 2011 in “Human Fertility” Many women with PCOS have undiagnosed health issues and show different symptoms based on the clinic they visit.
7 citations
,
June 2017 in “Journal of Cutaneous Pathology” Cystic panfolliculoma resembles hair follicle tumors due to specific cell interactions.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
1 citations
,
November 1991 in “PubMed” Immunoadsorption successfully treated a man's resistant polymyositis.
22 citations
,
March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
97 citations
,
February 2007 in “Clinical Obstetrics and Gynecology” The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
21 citations
,
June 2016 in “Reproductive Sciences” Women with PCOS, especially those overweight, have higher levels of IL-18 in their endometrium, which may affect fertility.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.