Congenital Melanocytic Nevus with Distinctive Nevus Cell Proliferation within Multiple Epidermal Cyst-Like Changes

Joo, Hong Jin; Kim, Jung Eun; Kang, Hoon

doi:10.5021/ad.2016.28.1.123

Ann Dermatol

2016

DOI: 10.5021/ad.2016.28.1.123

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Congenital Melanocytic Nevus with Distinctive Nevus Cell Proliferation within Multiple Epidermal Cyst-Like Changes

Hong Jin Joo

Jung Eun Kim

Hoon Kang

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2018

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“…Epidermal cysts have occasionally been reported within small CMN on the face (Joo, Kim, & Kang, ), but association of multiple epidermal cysts with a giant CMN has never been described. The late onset and lone site point to the initial trauma as a precipitating factor.…”

mentioning

confidence: 99%

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Etchevers

Rosé²,

Kahle

et al. 2018

Pigment Cell Melanoma Res

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Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both gluteal and occipital congenital nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS, or PIK3CA were undetectable. This is the first demonstration of a recurrent BRAF mutation in multiple large congenital nevi from the same individual, confirming that this malformation can have multiple genetic origins. Early constitutive activation of BRAF can therefore cause unusual associations of giant nevi with vascular malformations, indicating that both pigment and endothelial cell physiology may be affected by mosaic RASopathies.

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mentioning

confidence: 99%

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Etchevers

Rosé²,

Kahle

et al. 2018

Pigment Cell Melanoma Res

View full text Add to dashboard Cite

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Congenital Melanocytic Nevus with Distinctive Nevus Cell Proliferation within Multiple Epidermal Cyst-Like Changes

Cited by 1 publication

References 5 publications

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

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