160 citations
,
January 2017 in “Development” Blood vessels and specific genes help turn cartilage into bone when bones heal.
13 citations
,
October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
8 citations
,
July 2014 in “American Journal of Dermatopathology” Cutaneous keratocyst and steatocystoma should be called "sebaceous duct cyst" due to their similarities.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
12 citations
,
January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
83 citations
,
May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
April 2024 in “Diagnostics” Most orthodontic patients with missing teeth also have hair disorders.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
6 citations
,
October 2001 in “British Journal of Ophthalmology” 1 citations
,
August 2010 in “Optometry and Vision Science” A 4-year-old boy's vision and hair loss were likely caused by inflammation.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
30 citations
,
November 2018 in “EMBO Reports” The Ovol2-Zeb1 circuit is crucial for skin healing and hair growth by guiding cell movement and growth.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
3 citations
,
January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
June 2023 in “International Journal of Dermatology”
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
36 citations
,
January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
September 2024 in “Dermatology Reports” Sonidegib often causes hair loss, and LC-OCT helps identify early signs.