Case Report: 8-Year-Old Boy with Neurofibromatosis Type 1 and Alopecia from King Abdulaziz Medical City of the National Guard, Saudi Arabia
January 2023
in “
Zenodo (CERN European Organization for Nuclear Research)
”
Studysummary This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
This case report discusses an 8-year-old boy with neurofibromatosis type one (NF1) who presented with an unusual combination of disorders, including a rare hair disorder known as trichothiodystrophy (TTDY) and a rare ophthalmological issue, retinal atrophy. NF1 is a genetic disorder that can manifest in various ways, often causing skin or eye spots and benign nerve tumors. While many children with NF1 experience few medical issues, about 40% face complications. The report highlights the rarity of the co-occurrence of NF1 with TTDY, making this case particularly noteworthy.
