Case Report


A supraclavicular mass with skin macules «café-au-lait»: Neurofibromatosis 1

,  ,  ,  ,  ,  

1 MD, Radiology Department, Ibn Sina Paediatric Teaching Hospital, Mohammed V University, Rabat, Morocco

2 MD, Professor, Radiology Department, Ibn Sina Paediatric Teaching Hospital, Mohammed V University, Rabat, Morocco

Address correspondence to:

Romeo Thierry Yehouenou Tessi

MD, Radiology Department, Ibn Sina Paediatric Teaching Hospital, Mohammed V University, BP 6527, Rabat,

Morocco

Message to Corresponding Author


Article ID: 101411Z01RT2023

doi: 10.5348/101411Z01RT2023CR

Access full text article on other devices

Access PDF of article on other devices

How to cite this article

Yehouenou Tessi RT, Lahlou C, Rostoum S, El Haddad S, Allali N, Chat L. A supraclavicular mass with skin macules «café-au-lait»: Neurofibromatosis 1. Int J Case Rep Images 2023;14(2):57–62.

ABSTRACT


Neurofibromatosis type 1 is a genetic disorder representing one of the most common forms of Von Recklinghausen’s disease. The neurofibromatoses are a group of heterogeneous, yet distinct, autosomal-dominant inherited neurogenetic disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. It is characterized by a large clinical polymorphism with the development of «café-au-lait» skin spots, benign tumors affecting the skin, peripheral nerves, optic pathway, and can involve the brain, bones, and vessels. We report the case of an 8-year-old child with neurofibromatosis type 1 diagnosis confirmed with clinical presentation and histological examination. He was referred for multidisciplinary management. There are clear diagnostic criteria according to a consensus (two or more criteria for diagnosis). The diagnosis is foremost clinical; the role of imaging is threefold: firstly, to confirm the diagnosis, secondly, to delineate extent of disease, and thirdly, suggests the type of the tumors in the affected patient. It helps to manage complications and follow-up. Histological examination confirms the diagnosis.

Keywords: Café-au-lait macules, CT scan, MRI, Neurofibroma, Neurofibromatosis 1

SUPPORTING INFORMATION


Acknowledgments

We thank the following individuals for their review of earlier drafts of the manuscript: Prof. Latifa Chat and Prof. Nazik Allali, chief service and deputy chief service of Radiology Department, Ibn Sina Paediatric Teaching Hospital, Mohammed V University, Rabat, Morocco.

Author Contributions

Romeo Thierry Yehouenou Tessi - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Chaimae Lahlou - Substantial contributions to conception and design, Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published

Soufiane Rostoum - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Siham El Haddad - Revising it critically for important intellectual content, Final approval of the version to be published

Nazik Allali - Revising it critically for important intellectual content, Final approval of the version to be published

Latifa Chat - Revising it critically for important intellectual content, Final approval of the version to be published

Guarantor of Submission

The corresponding author is the guarantor of submission.

Source of Support

None

Consent Statement

Written informed consent was obtained from the patient for publication of this article.

Data Availability

All relevant data are within the paper and its Supporting Information files.

Conflict of Interest

Authors declare no conflict of interest.

Copyright

© 2023 Romeo Thierry Yehouenou Tessi et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.


Comment on Article