Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family

    August 2011 in “ Dermatology Reports ”
    Khalid M. Al Aboud, Daifullah Al Aboud
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    TLDR Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
    In 2011, Khalid Al Aboud and Daifullah Al Aboud identified a new family with autosomal recessive hypotrichosis simplex (ARHS) with woolly hair, involving two female siblings from a Saudi family who experienced progressive hair loss from early childhood. Previous diagnoses of telogen effluvium and diffuse alopecia areata were ruled out as light microscopy showed no structural hair abnormalities and skin biopsies indicated normal hair follicles and sebaceous glands. The researchers concluded that the siblings had ARHS with woolly hair based on clinical and family history, suggesting the condition might be underdiagnosed. They emphasized the need for accurate diagnosis in hereditary hair loss disorders and acknowledged the lack of treatment for ARHS.
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