August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
1 citations
,
January 2018 in “ARC Journal of Dermatology” A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
CAR-T cell therapy shows promise for treating autoimmune disorders but faces challenges like complex manufacturing and limited tissue penetration.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
95 citations
,
October 2020 in “Cell & Bioscience” Mesenchymal stem cell therapy shows promise for liver disease but faces challenges in standardization and approval.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
1 citations
,
September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
1 citations
,
September 2025 in “The Oncologist” Effective management of side effects is crucial for safe use of sacituzumab govitecan in advanced breast cancer treatment.
6 citations
,
September 2013 in “Journal of Evolution of Medical and Dental Sciences” Low CD4 counts in HIV patients are linked to more skin disorders.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
15 citations
,
May 2021 in “British journal of dermatology/British journal of dermatology, Supplement” Cell therapy shows promise for treating severe psoriasis but needs more research to confirm safety and effectiveness.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
54 citations
,
February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.