Agminated Blue Naevi in a Patient with EMO Syndrome

Agminated segmental plaque‐type blue nevus associated with hypertrichosis and soft tissue hypertrophy: Report of a case and review of the literature

“…The aggregation of melanocytes around appendages and neurovascular bundles is also commonly seen in BN. In our case, we found diffuse dermal melanocytosis, without the characteristic dendritic melanocytes of a single BN, within the dermis, which is consistent with findings reported in some of the previous cases of ABN …”

“…ABN is a rare entity that clinically may be similar in appearance to nevus spilus or juvenile melanoma, although the histology is usually consistent with common BN . Lesions most commonly occur on the limbs, although other locations such as the temples have also been described . Upshaw and colleagues reported the first case of a PTBN on the thorax of a 9‐year‐old boy .…”

“…The natural history of ABN is that they follow an indolent course, although enlargement or development of new lesions within a preexisting ABN is common . Generally ABN are not associated with underlying syndromes or diagnoses; there have been cases of ABN occurring in association with other pigmented lesions, dermatomyositis, and Carney complex, but the clinical significance of these associations has not been established …”

Agminated blue nevus with a GNAQ mutation: A case report and review of the literature

“…To date, only three cases of agminated BN have reported genetic data, but none have identified a probably causative mutation. This case is the first to identify an association between GNAQ mutations and agminated blue nevus.…”

“…Interestingly, one case highlighted a superficial spreading melanoma (tumor thickness 1.8 mm, pT2aN0M0, stage IB) developing in conjunction with acquired dermal melanocytosis on a nevus spilus. 24 Agminated BN have also been described in conjunction with EMO syndrome/Carney complex (caused by mutations in PRKAR1A), 25 dermatomyositis, 26 and Darier disease. 27 Blue nevi are triggered by constitutive activating mutations in GNAQ or GNA11, the protein products of which signal through the mitogen-activated protein kinases (MAPK) pathway.…”