11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
January 2022 in “Clinical Cases in Dermatology” A woman's scalp nodule was a common, harmless pilar cyst, treated by surgical removal.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
3 citations
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September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
26 citations
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May 1988 in “Pediatric dermatology” Eruptive vellus hair cysts can run in families.
June 2026 in “Skin Appendage Disorders” Pili annulati may be more common than thought, so recognizing its features is important for diagnosis.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
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.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
41 citations
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January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
January 1995 in “Skin Cancer” The outer root sheath in hair follicles changes during growth, with different keratinization processes in its layers.
July 1979 in “Archives of Dermatology” A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
March 2026 in “Journal of Investigative Dermatology”
January 2025 in “Dermatology Practical & Conceptual” Perinevoid alopecia can be effectively treated with non-invasive corticosteroids.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 1 citations
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January 2019 in “Pan African Medical Journal” Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
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.
6 citations
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October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
3 citations
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December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
26 citations
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May 2001 in “British Journal of Dermatology” Pilomatrixomas likely originate from the hair matrix due to changes in hair keratin expression.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
12 citations
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August 1988 in “Histopathology” The tumor likely shows dual neural crest differentiation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
January 2025 in “Dermatology Review” Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
2 citations
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January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
August 2023 in “Journal of Investigative Dermatology” Senescent melanocytes in nevus skin boost hair growth.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.