Large plxiform neurofibroma and many smaller ones as well - pathognomic of "von Recklinghausen disease)" aka Neurofibromatosis - type 1.
A more subtle variant / manifestation of Neurofibromatosis - type 1 is axillary freckling ( which we should not forget ) A more pronounced case Related Self Assessment Question Question 1 of 3 On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis. Which condition does she likely have? A. Sturge-Weber syndrome B. neurofibromatosis, type 1 (NF-1, von Recklinghausen's disease) C. tuberous sclerosis D. CHARGE Association E. Beckwith-Wiedemann syndrome The answer is B. Question 2 of 3 On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis. Which of the following physical findings would be expected on closer physical examination? A. port-wine stain in the V1 distribution B. subungual hamartomas C. Lisch nodules on the iris D. Hutchinson's teeth E. kinky brittle scalp hair The answer is C. Question 3 of 3 On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis. After she has been diagnosed, you spend time counseling her about future complications. These would include which of the following? A. increased risk of glaucoma B. increased risk of melanoma C. decreased fertility in females due to ovarian failure D. increased risk of blindness due to optic gliomas E. short final height due to hypothyroidism The answer is D. EXPLANATION: Axillary freckling (also called the Crowe sign) is highly associated with NF-1. Café au lait spots and hypermelanotic macules in the axillae make up two major criteria in the diagnosis of NF-1. Having both of these would fulfill the National Institutes of Health (NIH) consensus criteria for the diagnosis of NF-1. Children with NF-1 may develop Lisch nodules, which are hamartomas on the iris. Lisch nodules do not affect vision and do not have any malignant potential. They are usually not present in early childhood, but appear during adolescence. (Jones, 1997, pp. 508”“509) The finding listed which is most consistent with NF-1 is Lisch nodules on the iris. These nodules are benign hamatromas of the iris. The sentinel physical finding of Sturge-Weber is a port-wine stain of the trigeminal V1 or V2 distribution. Subungual hamartomas are a common finding in tuberous sclerosis. Hutchinson's teeth are associated with congenital syphilis. Kinky brittle scalp hair is seen in Menke Kinky hair syndrome. [FONT=&]It is recommended that yearly visual acuity be followed in children with NF-1 due to the increased risk of optic nerve gliomas. These benign tumors can result in blindness. [/FONT][FONT=&] optic glioma [/FONT]
