40 citations
,
August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
10 citations
,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
6 citations
,
July 2017 in “Clinical and Experimental Dermatology” Four new cases confirmed the unique features of follicular porokeratosis.
24 citations
,
January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
12 citations
,
January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
42 citations
,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
2 citations
,
February 2013 in “Journal of the Saudi Society for Dermatology & Dermatologic Surgery” New hair spray caused a hair shaft disorder.
1 citations
,
December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
The naked mutation in mice causes hair loss and helps identify keratin genes.
1 citations
,
September 2024 in “Veterinary Dermatology” Trichography is important for diagnosing hair fragility in Pomeranian dogs with hair cycle issues.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
23 citations
,
February 1993 in “Journal of Investigative Dermatology”
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
8 citations
,
May 2021 in “Journal of the European Academy of Dermatology and Venereology” A COVID-19 patient had unusual nail discoloration and nail separation possibly due to the virus's effects on small blood vessels.
2 citations
,
January 2018 in “Indian dermatology online journal” A homeopathic antidandruff shampoo caused severe hair matting in a girl.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.