1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
6 citations
,
April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
April 2018 in “Blackwell's Five‐Minute Veterinary Consult Clinical Companion” The document provides a guideline to help identify skin conditions in small animals based on lesion characteristics.
June 2023 in “Medical records-international medical journal” Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
24 citations
,
November 2015 in “Experimental Cell Research” Sebum from sebocytes is important for skin health and linked to conditions like acne and hair loss.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
April 2010 in “Cancer Research” Basal cell carcinomas may use IDO to protect themselves from the immune system.
October 2021 in “Journal of Investigative Dermatology” COVID-19 infection rates were low in patients with immune diseases, regardless of their treatment type.
1 citations
,
March 2019 in “Journal of Interdisciplinary Medicine” A patient with multiple sclerosis developed skin reactions after Daclizumab treatment, requiring more data on the drug's effects.
5 citations
,
January 2022 in “Scientific reports” The research identified two types of keratinocytes in chicken scales: one for hard scales and another for soft skin, with similarities to human skin differentiation.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
338 citations
,
April 2001 in “Current Biology” c-Myc activation in mouse skin increases sebaceous gland growth and affects hair follicle development.
April 2023 in “Journal of Investigative Dermatology” Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
1 citations
,
February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
February 2026 in “International Journal of Molecular Sciences” Removing Lrig1-positive cells in mice leads to temporary loss of sebaceous glands.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.