Gomez-Lopez-Hernandez Syndrome: Another Consideration in Focal Congenital Alopecia

    Diana Purvis, A. Ramírez, NigelW. Roberts, J.I. Harper
    TLDR Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
    Gomez–Lopez–Hernandez syndrome (GLHS) is a rare neurocutaneous disorder characterized by cerebellar malformation, trigeminal anaesthesia, focal scalp alopecia, and craniosynostosis. A reported case involved a boy with bitemporal alopecia from birth, hypotonia, and plagiocephaly. Despite normal chromosomes, metabolic screening, and head ultrasound, he experienced delayed motor milestones, strabismus, and recurrent febrile convulsions. By age 4.5, he functioned normally with poor balance, attended mainstream school, and excelled academically and in sports. At 9, he had a mild head injury with temporary double vision and headaches.
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