2 citations
,
May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
Understanding genetics is crucial for treating heart and skin diseases.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
September 2023 in “Journal of the American Academy of Dermatology” Certain factors like being female, having high cholesterol, using Medicaid, and previous non-biologic treatments increase the risk of multiple biologic failures in psoriasis patients.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
1 citations
,
January 2008
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
1 citations
,
November 2023 in “Journal of neurology” A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
1 citations
,
November 2025 in “International Journal of Clinical Pharmacy” Cladribine has known risks and potential new safety concerns, requiring careful monitoring.
June 2024 in “British Journal of Dermatology” Scalp disease in dermatomyositis causes significant symptoms and has unique features.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
July 2023 in “Indian Journal of Sexually Transmitted Diseases and AIDS” "Moth-eaten alopecia" can be a sign of secondary syphilis, treatable with penicillin.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
6 citations
,
April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
1 citations
,
July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
29 citations
,
April 2019 in “Acta neuropathologica communications” Stopping mitochondrial respiration can prevent brain cancer spread in skin cancer patients, and plant compound β-sitosterol could help achieve this.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
1 citations
,
March 2024 in “Oxford Medical Case Reports” Moth-eaten hair loss can be a sign of syphilis.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
9 citations
,
February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
September 2016 in “Case Reports in Internal Medicine” Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
7 citations
,
November 2021 in “JAAD Case Reports” Mogamulizumab can cause hair loss and skin rashes.
4 citations
,
November 2016 in “The Journal of Dermatology” Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
86 citations
,
January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
January 2026 in “Contemporary Clinical Dentistry” VKHD can include rare oral symptoms like discolored teeth.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.