Neurocutaneous Syndromes: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Introduction == | == Introduction == | ||
Neurocutaneous syndromes are a group of congenital disorders affecting the skin, eye and nervous system which manifest in early childhood or adolescence. Neurofibromatosis (NF) and Tuberous Sclerosis Complex (TSC) are the most common among them and are together referred to as phakomatoses. Other conditions include Sturge-Weber syndrome and Von Hippel-Landau disease.<ref>Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589. doi: 10.1016/B978-0-444-53485-9.00027-1.</ref><ref>Troullioud Lucas AG, Mendez MD. Neurocutaneous Syndromes. [Updated 2020 Oct 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK537001/</nowiki></ref> | Neurocutaneous syndromes are a group of congenital disorders affecting the skin, eye and nervous system which manifest in early childhood or adolescence. Neurofibromatosis (NF) and Tuberous Sclerosis Complex (TSC) are the most common among them and are together referred to as phakomatoses. Other conditions include Sturge-Weber syndrome and Von Hippel-Landau disease.<ref>Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589. doi: 10.1016/B978-0-444-53485-9.00027-1.</ref><ref>Troullioud Lucas AG, Mendez MD. Neurocutaneous Syndromes. [Updated 2020 Oct 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK537001/</nowiki></ref> | ||
== Clinical Features == | == Clinical Features == | ||
NF commonly presents with café-au-lait spots (coffee colored lesions) and neurofibromas (soft flat or elevated dome-shaped tumors). Involvement of CNS can cause seizures and cognitive impairments. Half of the cases may present with bony abnormalities such as scoliosis.<ref name=":0">Shimizu H. Shimizu's Textbook of Dermatology. John Wiley & Sons; 2017.</ref> | NF commonly presents with café-au-lait spots (coffee colored lesions) and neurofibromas (soft flat or elevated dome-shaped tumors). Involvement of CNS can cause seizures and cognitive impairments. Half of the cases may present with bony abnormalities such as scoliosis.<ref name=":0">Shimizu H. Shimizu's Textbook of Dermatology. John Wiley & Sons; 2017.</ref> | ||
| Line 16: | Line 15: | ||
== Management == | == Management == | ||
{{#ev:youtube|eOFdSmHQo-Y}} | |||
== References == | == References == | ||
<references /> | <references /> | ||
Revision as of 17:13, 18 June 2021
Introduction[edit | edit source]
Neurocutaneous syndromes are a group of congenital disorders affecting the skin, eye and nervous system which manifest in early childhood or adolescence. Neurofibromatosis (NF) and Tuberous Sclerosis Complex (TSC) are the most common among them and are together referred to as phakomatoses. Other conditions include Sturge-Weber syndrome and Von Hippel-Landau disease.[1][2]
Clinical Features[edit | edit source]
NF commonly presents with café-au-lait spots (coffee colored lesions) and neurofibromas (soft flat or elevated dome-shaped tumors). Involvement of CNS can cause seizures and cognitive impairments. Half of the cases may present with bony abnormalities such as scoliosis.[3]
TSC presents with facial angiofibromas (symmetrical lesions around the nose and cheek), shagreen patch (a leathery patch around the sacral region), white-leaf macules (depigmentation seen over the trunk and lower legs), Koenen's tumor (an angiofibroma on the edge or surface of the nail plate). CNS symptoms include seizures and cognitive impairment.[3]
Sturge-Weber syndrome commonly presents with hemifacial hemangioma (over the first or second division of the trigeminal nerve). CNS impairments can include contralateral hemiplegia, seizures and cognitive decline.[3]
Von Hippel-Lindau syndrome may present with angiomas, café-au-lait spots and tumors in multiple body systems including renal and pancreatic tumors.[3]
All neurocutaneous syndromes may involve the eye and present with varying severity of visual impairment.[3]
Management[edit | edit source]
References[edit | edit source]
- ↑ Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589. doi: 10.1016/B978-0-444-53485-9.00027-1.
- ↑ Troullioud Lucas AG, Mendez MD. Neurocutaneous Syndromes. [Updated 2020 Oct 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537001/
- ↑ 3.0 3.1 3.2 3.3 3.4 Shimizu H. Shimizu's Textbook of Dermatology. John Wiley & Sons; 2017.
