November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
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.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
January 2018 in “대한피부과학회지” Stopping erlotinib improved severe hair loss and skin issues in a patient.
1 citations
,
October 2012 in “The Journal of Dermatology” A Korean girl developed kinky hair without known cause or effective treatment.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
Lhx2 helps retinal cells respond to signals for eye development.
3 citations
,
November 2018 in “Curēus” The cause and importance of misplaced oil glands in the hair follicle are not well understood.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
18 citations
,
June 1993 in “Archives of Dermatological Research” Human hair follicles can be used to create skin-like tissue for wound healing and drug testing.
8 citations
,
January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
April 2024 in “Communications biology” Enzymes involved in Vitamin A metabolism affect hair growth and type in mice.
14 citations
,
June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
4 citations
,
January 2016 in “Methods in molecular biology” Hair follicle stem cells can become nerve cells using specific treatments.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
2 citations
,
November 2023 in “Skin Appendage Disorders” Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
14 citations
,
April 1976 in “Journal of Cutaneous Pathology” A calcified nodule on a boy's face came from hair follicles and expelled calcium through the skin.
10 citations
,
April 2014 in “Molecular and Clinical Oncology” Alopecia areata can be an early sign of Hodgkin’s lymphoma and may improve with lymphoma treatment.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.