140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
35 citations
,
September 2004 in “American Journal of Dermatopathology” A rare nail bed cancer was successfully treated with no recurrence after 4 years.
17 citations
,
December 2001 in “Journal of Investigative Dermatology” The osteopontin gene is active in a specific part of rat hair follicles during a certain hair growth phase and might affect hair cycle and diseases.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
May 2025 in “The Journal of Dermatology” November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
12 citations
,
March 2013 Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
13 citations
,
March 2000 in “Veterinary Dermatology” Dogs have a skin condition like human pseudopelade, causing hair loss that doesn't improve with treatment.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
9 citations
,
June 2020 in “JAAD Case Reports” Dissecting cellulitis may have genetic links and can cause permanent hair loss.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
January 2024 in “Skin Appendage Disorders” 19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
2 citations
,
August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
23 citations
,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
46 citations
,
August 2012 in “Experimental Dermatology” Engineered skin can grow chimeric hair follicles only with mouse dermal papilla cells.