Autosomal Recessive Hereditary Hypotrichosis Simplex: A Case Report
November 2024
in “
JAAD Case Reports
”
New to Minoxidil? There is a guide in the encyclopedia. Read the guide → Studysummary In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.
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This case report describes a 21-month-old Saudi Arabian boy with autosomal recessive hereditary hypotrichosis simplex, a rare genetic disorder characterized by sparse hair due to a mutation in the LSS gene. The boy presented with thin, short hair since birth, but no other physical abnormalities. Genetic analysis identified a homozygous variant of uncertain significance in the LSS gene, with both parents being heterozygous carriers. Management included counseling on treatment options, such as topical minoxidil, and genetic counseling for the family. The report emphasizes the importance of genetic analysis in diagnosing rare hair disorders and highlights the need for ongoing research to better understand these conditions and develop effective treatments.
