Neurofibromatosis
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It’s Mnemonic Monday! Neurofibromatosis Major Diagnostic Criteria

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On this Mnemonic Monday, we challenge you to remember the major diagnostic criteria for neurofibromatosis type I with the following mnemonic:

Chase Bank LOANS

C– Café-au-lait spots

B– Bony abnormalities (sphenoid wing dysplasia, pseudoarthrosis, sphenoid dysplasia, scoliosis)

L– Lisch nodules (iris hamartomas)

O–Optic glioma

A– Axillary/inguinal freckling (Crowe’s sign)

N– >1 Neurofibroma or 1 plexiform neurofibroma

S– “Sister” aka 1st degree relative with NF1

This mnemonic refers to the major diagnostic criteria for neurofibromatosis type I. Two major diagnostic criteria are needed. The major diagnostic criteria include: 6 or more café au lait macules, axillary or inguinal freckling (Crowe’s sign), 2 or more neurofibromas or 1 plexiform neurofibroma, 2 or more Lisch nodules (iris hamartomas), optic glioma, bony lesions (pseudoarthrosis osseous lesions, sphenoid dysplasia, scoliosis), 1st-degree relative with NF-1.

Click HERE to download or print your mnemonic card.

Study More!

Need a refresher on neurofibromatosis? Check out pages 225-226 of your 2020 Derm In-Review Study Guide.

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Further Reading

Check out the following case report published in the Journal of Drugs in Dermatology (JDD):

Eruptive Plexiform Schwannomas in a Child With Neurofibromatosis I

Introduction

We report a case of eruptive plexiform schwannomas in a child with newly diagnosed Neurofibromatosis II. After the initial eruption of lesions, there was no subsequent development of any cutaneous lesions to our knowledge.

Case Report

A nine-year-old male with a past medical history significant for a cataract at age two, with no known family history of neurocutaneous disorders, presented with a stumbling gait and hip pain in May 2010. Orthopedic examination revealed no traumatic cause and a neurological evaluation was undertaken. Two months later, in July of 2010, an MRI of his spine revealed a thoracic spine tumor. Within weeks, paralysis ensued. Surgical resection of the tumor revealed a meningioma at the level of T5/T6. On further examination, bilateral acoustic neuromas were discovered despite the patient having no hearing deficits. A diagnosis of Neurofibromatosis II was rendered at this time.

Nearly three months later, in October of 2010, dermatology was called to evaluate multiple new asymptomatic brown lesions on his trunk and extremities. On physical examination, multiple papillated flesh- to brown-colored round to oval plaques were present on the trunk and extremities (Figures 1-2). A 3 mm punch biopsy was performed on an abdominal lesion to rule out neurofibroma versus a connective tissue nevus. Of note, these lesions became painful within two weeks.

Neurofibromatosis I

Histopathology revealed a dermal neoplasm with plexiform architecture (Figures 3-4). The neoplasm consisted of well-circumscribed fascicles of spindle cells with thin wavy nuclei and pale pink cytoplasm consistent with neural origin. Immunohistochemical staining was consistent with a plexiform schwannoma (S100 positive diffusely, Neurofibromin patchy throughout, Epithelial Membrane Antigen positive, Smooth Muscle Antigen negative, Desmin negative). Given the clinical setting, these lesions were believed to be eruptive plexiform schwannomas, not previously reported to arise in this fashion. Read the full case report here.
Neurofibromatosis

 

Test your knowledge!

Which of the following signs is not a criterion for the diagnosis of Neurofibromatosis type I?

A: Bilateral vestibular schwannomas

B: Axillary freckling

C: Optic gliomas

D: Greater than 5 café-au-lait macules

E: Sphenoid dysplasia

To find out the correct answer and read the explanation, click here.

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