June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
June 2021 in “The Journal of Family Practice” A 69-year-old woman has a fast-growing hand lesion that didn't improve with salicylic acid.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
11 citations
,
February 2023 in “British Journal of Pharmacology” Isoxazole 9 (ISX9) may help regrow hair by activating certain cell signals.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
30 citations
,
January 1999 in “Journal of Cutaneous Pathology” Spiny keratoderma may be ectopic hair formation on palms and soles.
1 citations
,
February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
17 citations
,
January 2009 in “Nippon Ishinkin Gakkai Zasshi” A 10-year-old boy recovered from a scalp infection caused by a fungus after treatment with itraconazole.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
46 citations
,
November 1998 in “Experimental Cell Research” K15 gene is mainly active in the basal layers of hair follicles and epithelia, aiding early skin cell development.
June 2025 in “Frontiers in Immunology” Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
11 citations
,
July 2016 in “Endocrinology” Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
4 citations
,
November 1999 in “PubMed” Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
September 2023 in “Nature communications” Alk1 in specific cells is crucial for proper nerve branching and hair function.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
January 2025 in “Veterinary Record Case Reports” The dog's skin condition improved quickly with treatment and did not return.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
25 citations
,
April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
80 citations
,
June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.