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Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Acta Derm Venereol. 2020 Mar 25; 100(7):adv00093.AD

Abstract

Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Legius syndrome is not characterized by an increased risk of tumours, and a correct diagnosis is important. In young children with a sporadic form of multiple café-au-lait macules with or without freckling and no other manifestations of NF1 these 2 conditions cannot be differentiated based on clinical examination. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions. Other less frequent conditions with café-au-lait macules are Noonan syndrome with multiple lentigines, constitutional mismatch repair deficiency and McCune-Albright syndrome.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32147744

Citation

Denayer, Ellen, and Eric Legius. "Legius Syndrome and Its Relationship With Neurofibromatosis Type 1." Acta Dermato-venereologica, vol. 100, no. 7, 2020, pp. adv00093.
Denayer E, Legius E. Legius Syndrome and its Relationship with Neurofibromatosis Type 1. Acta Derm Venereol. 2020;100(7):adv00093.
Denayer, E., & Legius, E. (2020). Legius Syndrome and its Relationship with Neurofibromatosis Type 1. Acta Dermato-venereologica, 100(7), adv00093. https://doi.org/10.2340/00015555-3429
Denayer E, Legius E. Legius Syndrome and Its Relationship With Neurofibromatosis Type 1. Acta Derm Venereol. 2020 Mar 25;100(7):adv00093. PubMed PMID: 32147744.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Legius Syndrome and its Relationship with Neurofibromatosis Type 1. AU - Denayer,Ellen, AU - Legius,Eric, PY - 2020/3/10/pubmed PY - 2021/1/13/medline PY - 2020/3/10/entrez KW - Legius syndrome KW - NF1 KW - SPRED1 KW - CAL SP - adv00093 EP - adv00093 JF - Acta dermato-venereologica JO - Acta Derm Venereol VL - 100 IS - 7 N2 - Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Legius syndrome is not characterized by an increased risk of tumours, and a correct diagnosis is important. In young children with a sporadic form of multiple café-au-lait macules with or without freckling and no other manifestations of NF1 these 2 conditions cannot be differentiated based on clinical examination. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions. Other less frequent conditions with café-au-lait macules are Noonan syndrome with multiple lentigines, constitutional mismatch repair deficiency and McCune-Albright syndrome. SN - 1651-2057 UR - https://www.unboundmedicine.com/medline/citation/32147744/Legius_Syndrome_and_its_Relationship_with_Neurofibromatosis_Type_1_ L2 - https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-3429 DB - PRIME DP - Unbound Medicine ER -