A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
35 citations
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June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
June 2019 in “International journal of dermatology and venereology” The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.
21 citations
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December 2014 in “Clinics in dermatology” Squaric acid dibutylester effectively treats alopecia areata.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
September 2022 in “Skin appendage disorders” Seborrheic dermatitis may contribute to the development of central centrifugal cicatricial alopecia.
3 citations
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August 2020 in “Journal of The American Academy of Dermatology” Degenerative changes in the lower cervical spine are common in patients with abnormal scalp sensations, with some improvement seen using pain medication and physical therapy.
1 citations
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July 2021 in “Clinical and Experimental Dermatology” Finasteride helps reduce hidradenitis suppurativa symptoms in females.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
November 2014 in “International Society of Hair Restoration Surgery” 1 citations
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June 2019 in “Journal of Cutaneous Immunology and Allergy” Squaric acid dibutylester can cause severe skin reactions in people with allergies.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
54 citations
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May 2018 in “International journal of risk & safety in medicine” Antidepressants, 5α-reductase inhibitors, and isotretinoin can cause long-lasting sexual dysfunction.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
October 2023 in “Journal of the Endocrine Society” The desmopressin stimulation test helped identify an adrenal cause for a patient's Cushing's syndrome.
10 citations
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May 2024 in “Lasers in Surgery and Medicine” Laser hair removal effectively reduces hidradenitis suppurativa symptoms with few side effects.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
238 citations
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July 2003 in “British Journal of Plastic Surgery” Hidradenitis suppurativa, a chronic skin disease, can be managed with antibiotics, lifestyle changes, and in severe cases, surgery. Early diagnosis and careful planning are key, and laser treatment can be an efficient solution for mild to severe cases.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
8 citations
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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
January 2023 in “Archives of Disease in Childhood Education & Practice” Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
February 2025 in “International Journal of Impotence Research”