June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
8 citations
,
June 1981 in “Clinica Chimica Acta”
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
May 2025 in “The Journal of Rheumatology” Atypical symptoms in lupus can indicate different kidney issues.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
30 citations
,
August 2016 in “Advances in radiation oncology” Researchers developed a mouse model that successfully mimics the bladder damage seen in humans after radiation therapy.
146 citations
,
May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
30 citations
,
January 2007 Cyclophosphamide can cause serious short-term and long-term side effects, including increased cancer risk and infertility.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” Hair relaxers are linked to reduced cystine levels and potential hair damage.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
4 citations
,
April 1955 in “Textile Research Journal” The effectiveness of reducing agents on hair fibers depends on their electrode potentials.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
January 2007 in “Leather Science and Engineering” 11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
9 citations
,
January 2011 in “Journal of X-ray science and technology” Perming and bleaching damage hair differently, with bleached hair having more cysteic acid in the cuticle.
3 citations
,
March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
48 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.