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.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
23 citations
,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
83 citations
,
May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair 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.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
21 citations
,
June 2004 in “International Journal of Dermatology” Most skin diseases in Hajjah, Yemen, were dermatitis, infections, and acne, influenced by local socioeconomic and environmental factors.
10 citations
,
October 2017 in “Archivos Argentinos De Pediatria” Most hospitalized children with skin issues were boys, with allergic skin diseases like atopic dermatitis being most common, and treatments were usually topical.
8 citations
,
March 2023 in “British Journal of Dermatology” Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
8 citations
,
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.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
6 citations
,
June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
18 citations
,
June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
13 citations
,
January 2012 in “Dermatology” Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
108 citations
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November 1980 in “British Journal of Dermatology” Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.