June 2023 in “International Journal of Dermatology” Lichen planus pigmentosus mainly affects middle-aged women with darker skin, is underreported, and is hard to treat.
7 citations
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June 2009 in “Journal of the European Academy of Dermatology and Venereology” Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
March 2026 in “Anais Brasileiros de Dermatologia” Lichen planopilaris and frontal fibrosing alopecia are likely distinct diseases with different tissue involvement.
21 citations
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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.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
February 2026 in “JEADV Clinical Practice” Lichen planopilaris can cause hair loss on limbs, not just the scalp.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
71 citations
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May 2019 in “Rheumatology” Tph cells are linked to the severity of systemic lupus erythematosus.
January 2015 in “Hair transplant forum international” Up to 10% of hair loss patients might have early signs of a condition called Lichen Planopilaris.
A rare case of a woman having both lichen planus pigmentosus and classic lichen planopilaris at the same time.
6 citations
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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.
19 citations
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July 2022 in “PNAS Nexus” Similar treatments might work for different types of scarring hair loss.
48 citations
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November 2018 in “Journal of dermatological treatment” Women are more likely to have Lichen planopilaris, and treatments with cyclosporine and methotrexate are most effective but less safe than mycophenolate mofetil.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
37 citations
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October 2015 in “Anais Brasileiros de Dermatologia” Lichen planopilaris mostly affects women with fair skin and can look different on each person, needing early treatment to prevent hair loss.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
4 citations
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August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
16 citations
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August 2000 in “British Journal of Dermatology” Removing the liver tumor improved the patient's skin condition and hair growth.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.