Nevus anemicus and RASopathies

Bulteel, Charlotte; Morren, Marie‐Anne; Haes, Petra De; Denayer, Ellen; Legius, Eric; Brems, Hilde

doi:10.1016/j.jdcr.2017.09.037

Cited by 7 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is hypothesized to result from vasoconstriction induced by localized hypersensitivity of cutaneous arteriolar α1-adrenergic receptors to catecholamines. 3 We detected dilated and nondilated capillaries, indicating that the hypopigmented condition was not completely caused by increased sensitivity of cutaneous blood vessels to catecholamines. Histopathologic examination detected impaired melanogenesis and droplets of melanocytes into the dermis.…”

Section: E 281mentioning

confidence: 74%

“…Various vascular malformations and pigment disorders are associated with RASopathies which are caused by mutations in the RAS-MAPK (rat sarcoma protooncogene family mitogen-activated protein kinase) cascade. 3,5 Mosaic RASopathies can affect both pigment and endothelial cell physiology in the involved lesions. 5 Our case suggests that hypopigmentation in nevus anemicus is caused by immature melanogenesis and droplets of melanocytes.…”

Section: E 281mentioning

confidence: 99%

See 1 more Smart Citation

Nevus anemicus with immature melanogenesis and droplets of melanocytes in a patient with nevus anemicus, nevus flammeus, and mixed vascular nevus

Hamaguchi

Ohara

Nakajima

et al. 2023

The Journal of Dermatology

View full text Add to dashboard Cite

Section: E 281mentioning

confidence: 74%

Section: E 281mentioning

confidence: 99%

Nevus anemicus with immature melanogenesis and droplets of melanocytes in a patient with nevus anemicus, nevus flammeus, and mixed vascular nevus

Hamaguchi

Ohara

Nakajima

et al. 2023

The Journal of Dermatology

View full text Add to dashboard Cite

“…However, naevus anaemicus has been reported in a patient with Legius syndrome, as well as in a patient with Noonan syndrome with multiple lentigines due to a PTPN11 mutation. Naevus anaemicus is not specific for NF1 and cannot be used as a criterion to differentiate between NF1 and Legius syndrome ( 36 ).…”

Section: Legius Syndromementioning

confidence: 99%

Legius Syndrome and its Relationship with Neurofibromatosis Type 1

Denayer¹,

Legius²

2020

Acta Derm Venerol

View full text Add to dashboard Cite

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.

show abstract