7 citations
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November 2020 in “Journal of Tissue Viability” Transplanting a person's own hair can heal chronic wounds in certain skin conditions.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
8 citations
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
August 2025 in “Cosmetics” Cosmeceuticals like sunscreens may trigger frontal fibrosing alopecia, but more research is needed.
305 citations
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February 2007 in “Hormone and metabolic research” Human skin makes sexual hormones that affect hair growth, skin health, and healing; too much can cause acne and hair loss, while treatments can manage these conditions.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
40 citations
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February 1990 in “Journal of The American Academy of Dermatology” A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
2 citations
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November 2019 in “Cancer reports” The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
January 2025 in “Indian Journal of Dermatology” Frontal fibrosing alopecia is a challenging hair loss condition with no known cause or definitive treatment.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
54 citations
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January 2023 in “Signal Transduction and Targeted Therapy” New therapies are being developed that target integrin pathways to treat various diseases.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.