Which genetic disorder is characterized by cafe au lait macules and is associated with the tumor spectrum?

Prepare for the American Board of Professional Psychology (ABPP) Exam with flashcards and multiple-choice questions. Each question includes insights and explanations to help you excel. Get ready for your certification journey!

Multiple Choice

Which genetic disorder is characterized by cafe au lait macules and is associated with the tumor spectrum?

Cafe-au-lait macules with a tumor spectrum point to a neurocutaneous syndrome in which there is a broad risk of tumors along nerves and other tissues. This is neurofibromatosis type 1. It results from mutations in the NF1 gene, which encodes neurofibromin, a brake on Ras signaling. When neurofibromin is lost, cells can proliferate abnormally, leading to multiple neurofibromas and other tumors. Classic features include six or more café-au-lait spots, axillary or inguinal freckling, neurofibromas (cutaneous and sometimes plexiform), and Lisch nodules in the iris; there is also risk for optic pathway gliomas and pheochromocytomas. This combination of skin findings and tumor predisposition is what makes neurofibromatosis type 1 the best fit. Tuberous sclerosis tends to show ash-leaf hypopigmented patches and facial angiofibromas with tubers and subependymal nodules, not the café-au-lait pattern plus a broad neurogenic tumor spectrum. Sturge-Weber presents with a facial port-wine stain and leptomeningeal involvement rather than a tumor predisposition. Klinefelter syndrome is a chromosomal condition without this skin-tumor pattern.

Cafe-au-lait macules with a tumor spectrum point to a neurocutaneous syndrome in which there is a broad risk of tumors along nerves and other tissues. This is neurofibromatosis type 1. It results from mutations in the NF1 gene, which encodes neurofibromin, a brake on Ras signaling. When neurofibromin is lost, cells can proliferate abnormally, leading to multiple neurofibromas and other tumors. Classic features include six or more café-au-lait spots, axillary or inguinal freckling, neurofibromas (cutaneous and sometimes plexiform), and Lisch nodules in the iris; there is also risk for optic pathway gliomas and pheochromocytomas. This combination of skin findings and tumor predisposition is what makes neurofibromatosis type 1 the best fit.

Tuberous sclerosis tends to show ash-leaf hypopigmented patches and facial angiofibromas with tubers and subependymal nodules, not the café-au-lait pattern plus a broad neurogenic tumor spectrum. Sturge-Weber presents with a facial port-wine stain and leptomeningeal involvement rather than a tumor predisposition. Klinefelter syndrome is a chromosomal condition without this skin-tumor pattern.

More practice questions