Uncombable hair syndrome is a relatively rare anomaly of the hair shaft, with less than 100 cases reported to date, that results in a disorganized, unruly hair pattern that is impossible to comb flat. The characteristic longitudinal grooves along the hair shaft, along with the triangular or kidney-shaped cross section allows this condition to be diagnosed microscopically. The majority of cases are inherited in an autosomal-dominant manner with either complete or incomplete penetrance. There is no definitive treatment, and most cases improve with the onset of puberty.
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[Translated article] Uncombable Hair Syndrome Type 1.
Actas Dermosifiliogr
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First East Asian case of uncombable hair syndrome.
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Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Genome-Wide Association Study Identifies Genes for Hair Growth and Patterning are Associated With Pilonidal Disease.
Dis Colon Rectum
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Division of Colon and Rectal Surgery, Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Article Synopsis
- Pilonidal sinus disease is a condition causing chronic sinus tracts in the sacrococcygeal area, with potential genetic links that haven't been previously studied.
- The research involved a genome-wide association study with 772,072 participants to identify genetic factors related to the disease, revealing significant associations with multiple genes linked to hair characteristics and patterns.
- Results indicated that certain genetic variants, particularly those tied to hair disorders, could increase the likelihood of developing pilonidal sinus disease, highlighting the potential influence of hair-related genetics on this condition.*
Uncombable hair syndrome: burdensome or captivating?
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Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.
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Department of Dermatology, Hospital Universitario 12 de Octubre, I+12 Research Institute, Universidad Complutense, Madrid, Spain.
Two siblings presented with straw-colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome.
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