TLDR Trichoscopy is crucial for diagnosing rare genetic hair disorders.
This report describes two pediatric cases of atypical alopecia, highlighting the diagnostic role of trichoscopy. The first case involves a 4-year-old boy with congenital atrichia without papules, characterized by complete scalp hair loss shortly after birth, and the second case is a 6-year-old girl with Bjornstad syndrome and alopecia areata, featuring short, brittle hair and sensorineural hearing loss. Both conditions are rare genetic disorders with no specific treatments, emphasizing symptom management to improve quality of life. The study underscores the importance of trichoscopy in diagnosing these disorders, despite financial constraints limiting genetic analysis.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
1 citations
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January 2019 in “Paediatrics and Child Health” The document concludes that understanding hair biology and recognizing hair conditions are crucial for managing and treating hair loss in children.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
5 citations
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November 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
2 citations
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January 2010 in “International Journal of Trichology” The Hair India 2010 conference introduced a new hair loss classification and highlighted advanced diagnostic techniques in trichology.
January 2011 in “International Journal of Trichology” The conference highlighted new diagnostic tools, the role of genetics in hair loss, and emerging treatments.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
December 2020 in “Dermatology practical & conceptual” Trichoscopy helped diagnose a teenage girl's hair loss as monilethrix.
