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Case 13-1: Neurofibromatosis

Patient Presentation

An adult male presented complaining of a skin infection.

Figure 13-1.

Innumerable fleshy and pedunculated tumors

Clinical Features

Confluent lesions of neurofibromatosis were present. One of these fleshy and pedunculated tumors on his anterior abdominal wall was erythematous and warm.

Differential Dx

  • Bacterial cellulitis

  • Abscess

  • Fungal infection

Emergency Care

The patient was treated with an antibiotic on an outpatient basis.


This patient was lost to follow-up.

Key Learning Points

  • There are three clinically and genetically different forms of neurofibromatosis, with neurofibromatosis type 1 being the most common.

  • It is an autosomal dominant disease with 100% penetrance but highly variable expressivity.

  • Patients with neurofibromatosis type 1 are at an increased risk for optic and central nervous system neoplasms, soft tissue sarcomas, bony lesions, and neurologic manifestations such as seizures, cognitive deficits, and peripheral neuropathy.

  • As illustrated, neurofibromatosis can be a severely disfiguring disease. Rare face transplants have been performed in these patients.

Further Reading

Karmakar  S, Reilly  KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. CNS Oncol. 2017;6(1):45–60.  [PubMed: 28001089]
Kim  ST, Brinjikji  W, Lanzino  G, Kallmes  DF. Neurovascular manifestations of connective-tissue diseases: a review. Interv Neuroradiol. 2016;22(6):624–637.  [PubMed: 27511817]
Lantieri  L, Grimbert  P, Ortonne  N,  et al. Face transplant: long-term follow-up and results of a prospective open study. Lancet. 2016;388(10052)1398–1407.  [PubMed: 27567680]
Ma  JE, Hand  JL. What’s new with common genetic skin disorders? Minerva Pediatr. 2017;69(4):288–297.  [PubMed: 28425690]
Ullrich  NJ. Neurocutaneous syndromes and brain tumors. J Child Neurol. 2016;31(12):1399–1411.  [PubMed: 26459515]

Case 13-2: Educated vascular access for intravenous drug abuse

Patient Presentation

This is a young adult patient with a history of intravenous drug abuse. Three months before this visit, the patient presented comatose from an opioid overdose requiring positive pressure ventilation while an external jugular catheter was placed for naloxone administration. At that time, his external jugular did not have any track marks. When he returned for this visit three months later, examination of his right external jugular showed significant scarring due to healed track marks. The patient had apparently learned from his initial visit how to access his own external jugular vein.

Figure 13-2.

RA = Scarred needle track marks over the external jugular vein

Key Learning Points

  • External jugular, ...

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