November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
2 citations
,
January 2007 in “Actas Dermo-Sifiliográficas” Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
98 citations
,
July 1968 in “Archives of Dermatology” Human sebum can cause acne by clogging pores.
17 citations
,
October 2001 in “Veterinary dermatology” The skin issues in the two dogs might be caused by infection or self-injury, not genetics.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
May 2026 in “International Journal of Drug Delivery Technology” Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
3 citations
,
September 1998 in “International Journal of Dermatology” Acitretin effectively improved the woman's skin condition.
13 citations
,
January 2012 in “Dermatology” Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
27 citations
,
December 1999 in “American Journal of Dermatopathology” Necrobiosis lipoidica may need new criteria for accurate diagnosis due to similarities with another condition.
2 citations
,
January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
January 2018 in “The Kaohsiung journal of medical sciences” A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.
December 2001 in “中華皮膚科醫學雜誌” An 18-year-old boy had a harmless skin nodule near his nose with hair and oil glands inside.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
July 2021 in “Journal of dermatology research and therapy” Using combined treatments can help manage acne by targeting the bacteria and skin changes that cause it.
October 2025 in “Pediatric Dermatology” A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.