Multiple cutaneous granular cell tumors, joint hypermobility and mild facial dysmorphism in a child

Abstract

The combination of multiple cutaneous granular tumors with alterations in other organs is not only fortuitous, justifying the proposal of a distinct syndrome, termed "Bakos's syndrome" after the author who first described this association. The relation with neurofibromatosis type 1 is discussed, and an association is suggested with the range of variants of this syndrome.

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

“…Since Selmanowitz's report, two cases of MGCT have been clinically diagnosed with NF1 (22,23) and another two cases have been clinically diagnosed as NS (24,25). The association of MGCT with LS, and the previous reports linking MGCT with other syndromes related to the Ras/MAP kinase pathway, led us to observe that many of the collated cases of MGCT associated with syndromic features (26,27) also exhibited other phenotypic features shared by the neuro-cardio-facial-cutaneous syndromes (28). These included lentiginosis (29,30,31), cryptorchidism and ptosis (32), pulmonary stenosis and small joint hyperextensibility (33), hypertelorism and small joint hyperextensibility (26), and short stature (27,34,35).…”

“…The association of MGCT with LS, and the previous reports linking MGCT with other syndromes related to the Ras/MAP kinase pathway, led us to observe that many of the collated cases of MGCT associated with syndromic features (26,27) also exhibited other phenotypic features shared by the neuro-cardio-facial-cutaneous syndromes (28). These included lentiginosis (29,30,31), cryptorchidism and ptosis (32), pulmonary stenosis and small joint hyperextensibility (33), hypertelorism and small joint hyperextensibility (26), and short stature (27,34,35). Moreover, GCT originate from Schwann cells, which seem to be particularly vulnerable to aberrations in the Ras/MAP kinase pathway (36).…”

“…Both had strabismus and systolic cardiac murmurs, while the mother had bilateral hearing loss and hypertelorism. The association of MGCT with LS, and the previous reports linking MGCT with other syndromes related to the Ras/MAP kinase pathway, led us to observe that many of the collated cases of MGCT associated with syndromic features (26,27) also exhibited other phenotypic features shared by the neuro-cardio-facial-cutaneous syndromes (28). It was postulated that the rare syndrome and the rare multiple tumors had a common origin (21).…”

“…Of note, the daughter also had MGCT. These included lentiginosis (29,30,31), cryptorchidism and ptosis (32), pulmonary stenosis and small joint hyperextensibility (33), hypertelorism and small joint hyperextensibility (26), and short stature (27,34,35). However, the constitutional molecular lesion in these patients was not defined.…”

Smooth Auricular Cutaneous Granular Cell Tumor Mimics Epidermoid Cyst

“…Granular cell tumors (GCTs), previously known as Abrikossoff tumors [1,2], are benign neoplasms of Schwann cell origin. These rare tumors account for less than 1% of all soft tissue tumors.…”