5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
January 2007 in “Linchuang pifuke zazhi” A 15-year-old boy had a rare skin growth on his buttock.
December 2025 in “International Journal of Research in Dermatology” Keratosis pilaris is common in young females, and dermoscopy helps diagnose it accurately.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 1 citations
,
November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” Dermoscopy helps accurately diagnose and treat benign skin cysts.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
5 citations
,
February 2015 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” OCT can non-invasively diagnose follicular keratosis and other hair follicle disorders.
1 citations
,
October 2019 in “European Journal of Dermatology” Salicylic acid ointment effectively treated a toddler's skin condition.
1 citations
,
January 2019 in “Acta dermato-venereologica” The woman's skin and hair symptoms were confirmed as frontal fibrosing alopecia, and while facial papules are common in such cases, there's no effective local treatment, but systemic treatments can help.
2 citations
,
October 2024 in “Archives of Dermatological Research”
3 citations
,
September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
1 citations
,
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.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
12 citations
,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
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.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
3 citations
,
May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
December 2023 in “Journal of dermatology” The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
5 citations
,
January 2018 in “Springer eBooks” Acne in dark skin is influenced by environmental factors and can lead to hyperpigmentation, with various treatment options available.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
4 citations
,
December 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
9 citations
,
June 2003 in “Veterinary dermatology” Boxer dogs may have a genetic skin condition that worsens seasonally and can be treated with certain medications.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.