5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
3 citations,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
September 2021 in “Journal of the European Academy of Dermatology and Venereology” Francisco Camacho Martinez has made significant contributions to skin and sexually transmitted diseases, developed surgical techniques, but is concerned about patient survival rates and over-specialization in dermatology.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
29 citations,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
13 citations,
September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
12 citations,
January 2021 in “Journal of Investigative Dermatology” Hair follicle studies suggest that maintaining telomere length could help treat hair loss and graying, but it's uncertain if mouse results apply to humans.
11 citations,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
5 citations,
May 2022 in “Molecules” Botulinum toxin is effective for various skin conditions, but more research and awareness of side effects are needed.
3 citations,
December 2022 in “Cells” Cannabinoids like CBD and THC may help treat non-cancer skin diseases, but more research is needed.
3 citations,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
3 citations,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
3 citations,
May 2016 in “Dermatopathology” Lrig1 could be a marker for advanced sebaceous carcinoma.
1 citations,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
April 2024 in “Journal of translational medicine” Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
Oral Minoxidil could be a safe and effective alternative treatment for various non-androgenic alopecias.
July 2023 in “Journal of Clinical Medicine” The document concludes that understanding hair follicle histology and the hair cycle is crucial for diagnosing alopecia.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
53 citations,
January 2017 in “Skin appendage disorders” Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.
26 citations,
May 2014 in “BioEssays” Using neurohormones to control keratin can lead to new skin disease treatments.