47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
32 citations
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December 2014 in “Cold Spring Harbor Perspectives in Medicine” Disruptions in epidermal polarity genes can lead to skin diseases.
June 2023 in “Italian journal of dermatology and venereology” Trichoscopy effectively diagnoses allergic scalp contact dermatitis.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
4 citations
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November 2020 in “Case reports in dermatology” A rare skin condition causes red, dark, bumpy facial lesions.
36 citations
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
195 citations
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November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
2 citations
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July 2023 in “Urology Case Reports” Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
9 citations
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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
17 citations
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December 2009 in “Journal of Pediatric Orthopaedics” Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
71 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
26 citations
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February 1991 in “PubMed” Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
May 2025 in “The Journal of Rheumatology” A woman with skin and joint issues progressed from one type of lupus to another, highlighting the need to recognize complex conditions.
24 citations
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March 2008 in “Neuroscience Research” Cat paws have complex touch sensors for detailed sensory processing.
March 2026 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Corkscrew hairs can help diagnose trichotillomania.
13 citations
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September 1989 in “International Journal of Dermatology” Carbamazepine may cause reversible nail detachment.
8 citations
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May 2021 in “Journal of the European Academy of Dermatology and Venereology” A COVID-19 patient had unusual nail discoloration and nail separation possibly due to the virus's effects on small blood vessels.
March 2022 in “Ophthalmology Journal” A woman's rare benign eyelid tumor was correctly identified through detailed tissue analysis.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
June 2021 in “Nepalese Journal of Ophthalmology” A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.