12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
23 citations
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July 1994 in “Journal of Dermatological Science” Pili torti hair twists due to uneven outer root sheath cell development.
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.
January 2014 in “International Journal of Case Reports and Images” A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
5 citations
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October 2012 in “The Journal of Dermatology” Traumatic panniculitis can cause increased hair growth in affected areas.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
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.
2 citations
,
May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
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.
January 2024 in “Skin Appendage Disorders” 53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
November 2023 in “International Journal of Trichology” Alopecia areata may be linked to kidney issues, but more research is needed.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
1 citations
,
June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
October 1995 in “Pediatric Research” January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
7 citations
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August 2008 in “Cases Journal” A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
8 citations
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June 2012 in “Journal of Crohn s and Colitis” Managing multiple autoimmune diseases in one patient is extremely challenging.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
April 2011 in “www.virtualization.info” Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
8 citations
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September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.