Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society

Abstract

Dome-shaped papules with pink-to-tan structureless areas and peripheral irregular dots/globules or network should raise suspicion for BIMT.

BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

“…The dermoscopic features of the present BIMT lesions also included hypopigmented structureless areas and irregular eccentric globules. This pattern was significantly more frequent among the lesions harboring a BAP1 germline mutation, and this finding is consistent with the observations of Yelamos and collaborators [11]. However, the dermoscopic aspects of the present case differ from those of intradermal nevi which usually include a globular or globular-homogenous pattern with symmetrically distributed clustered globules and regular pigmentation [14].…”

“…Recently, a multicenter study conducted by the International Dermoscopy Society described clinical and dermoscopic features of BIMTs [11]. The most frequent clinical aspect reported was pink dome-shaped papules, followed by brown papules.…”

“…To date, BIMTs have yet to be characterized by confocal microscopy, and only a few studies have described their dermoscopic aspects [8, 10, 11]. Here, we report our comprehensive characterization of the clinical and genetic traits of a BAP1 mutation carrier.…”

BAP1 Tumour Predisposition Syndrome: A New Mutation in One Family

“…Conflicting reports have been published regarding the association with several other cancers, such as breast carcinoma, cholangiocarcinoma, meningioma, neuroendocrine tumours, non-small cell lung adenocarcinoma and thyroid cancer (11). In addition to malignancies, patients carrying the mutation are more susceptible to develop many (5-50) skin lesions with polymorphic clinical appearances (12), frequently presenting as skin-colored, dome-shaped, well-circumscribed papules (13) with pink-to-tan structureless areas and peripheral irregular dots/globules or networks (3). BIMTs arise from conventional naevi, mostly with initiating oncogenic mutations in BRAF, which are represented by the lateral pigment globules visible on dermoscopy.…”

“…Thereafter, renal cell carcinoma (RCC) was also shown to be associated with the syndrome (2). With regards to the skin, typical mutated lesions "BAP1 inactivated melanocytic tumours" (BIMTs) characterized by a deficiency in BAP1, have been described as part of the syndrome (3). Although the complete phenotype of the syndrome is still being defined, the literature suggests that several other cancers may also be associated with germline BAP1 mutations (2).…”