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.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
13 citations
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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.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
14 citations
,
October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
October 2022 in “Clinical Cosmetic and Investigational Dermatology” Pneumatic compression can cause skin bruising even in healthy individuals.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
May 2024 in “Indian journal of child health” A 7-year-old girl had a non-painful skin growth at her belly button, which was removed and identified as a keratinous cyst.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
38 citations
,
November 2006 in “Pediatric dermatology” Infants with scalp injuries developed a skin condition that improved with steroid creams.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
8 citations
,
April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The first pediatric case of naevus trichilemmocysticus was documented.
111 citations
,
April 2006 in “Annals of the New York Academy of Sciences” Vitamin D receptor is essential for healthy bones and skin.
January 2025 in “Acta Dermato Venereologica” Mothers with alopecia areata have a higher risk of adverse birth outcomes.
8 citations
,
August 1970 in “JAMA” Excessive vitamin A can cause symptoms that mimic serious brain conditions.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
March 2026 in “Scholars Journal of Medical Case Reports” Nail issues are common in kids with alopecia areata and should be checked for better diagnosis.
June 2025 in “JEADV Clinical Practice” Scarring alopecia is linked to higher rates of vitamin D deficiency, metabolic issues, mental health problems, thyroid disease, and other health conditions.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
4 citations
,
February 2014 in “Journal of the European Academy of Dermatology and Venereology” Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.
1 citations
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January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
January 2009 in “Repositório Científico do Instituto Politécnico de Viseu (Instituto Politécnico de Viseu)” The skin lesion was diagnosed as a matrical cyst with unusual features.
February 2026 in “Pediatric Dermatology”