Picture Quiz: Distinctive skin signs
BMJ 2007; 335 doi: https://doi.org/10.1136/sbmj.0712457 (Published 01 December 2007) Cite this as: BMJ 2007;335:0712457
- Menelaos Philippou, pre-registration house officer1,
- Katie Clifford, pre-registration house officer2,
- Steven Derbyshire, emergency medicine consultant1
- 1Manchester Royal Infirmary, Manchester M13 9WL
- 2Royal Oldham Hospital, Oldham OL12PN
A 48 year old man presented to the accident and emergency department with syncope and was admitted for further investigation. He had the signs shown in figures 1 and 2, which are well recognised clinical features of an inherited disorder.
Photo of patient's back
Close up of patient's back
Questions
(1) What are the lesions shown in figure 1?
(2) What is the lesion shown in figure 2?
(3) What is this condition called?
(4) What is the inheritance pattern?
Answers
(1) Neurofibromas (tumours arising from the Schwann cells and fibroblasts of the myelinated nerve sheath).
(2) Cafe-au-lait patch.
(3) Von Recklinghausens's neurofibromatosis.
(4) Autosomal dominant.
The condition neurofibromatosis encompasses at least two distinct diseases, neurofibromatosis type 1 (von Recklinghausen's neurofibromatosis) and neurofibromatosis type 2. The patient was diagnosed with neurofibromatosis type 2 on clinical grounds; his syncopal episode was incidental and unrelated.
Neurofibromatosis type 1
Neurofibromatosis type 1 was first described by RW Smith in 1849 and later in 1892 by Friedreich D von Recklinghausen. It is now recognised as the most …
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