98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
Gene editing holds promise for skin treatments but needs careful safety and ethical consideration.
8 citations
,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
17 citations
,
January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
1 citations
,
July 2025 in “Journal of Investigative Dermatology”
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
June 2008 in “British Journal of Dermatology” Herpes gestationis is linked to certain antigens, atopic eczema affects T cell populations and may be eased by breastfeeding, higher doses of anti-androgen treatment can improve androgenic alopecia, topical minoxidil increases hair thickness, long-term methotrexate therapy can cause liver fibrosis in psoriasis patients, and Lichen Sclerosus et Atrophicus patients aren't at higher risk for autoimmune disorders.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
April 2012 in “Cancer Research” EGFR deficiency in skin causes hair follicle issues and inflammation.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
1 citations
,
April 2024 in “Indian Journal of Pharmacy Practice” Autoimmune skin disorders are caused by genetic and environmental factors and are treated with various medications and preventative strategies.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
Mutations in keratin genes may link hair disorders to dental decay.
January 2018 in “Advances in Dermatology and Allergology” Treatment with dapsone, topical corticosteroids, and antibiotics improved the man's skin conditions.
12 citations
,
January 2000 in “Journal of cutaneous medicine and surgery” Microorganism overgrowth and hyperkeratosis may trigger immune reactions causing lichen planopilaris.
18 citations
,
April 2010 in “Archives of Dermatology” Psoriasis or contact dermatitis can override alopecia areata, allowing hair growth.
1 citations
,
March 2023 in “Tidsskrift for Den norske lægeforening” Keratosis pilaris is a common skin condition causing a bumpy texture, sometimes linked to other diseases, with various treatments available.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
13 citations
,
September 2019 in “Clinical, Cosmetic and Investigational Dermatology” Early treatment of EPDS can improve outcomes and reduce recurrence risk.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
1 citations
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August 1946 in “Archives of dermatology” The meeting highlighted the complexity and variability of skin conditions and differing opinions on their diagnoses and treatments.
June 2025 in “Veterinární Medicína” Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.