Lentiginosis profusa in daughter and mother: multiple granular cell "myoblastomas" in the former

Familial Granular Cell Tumors: A Case Report and Review of the Literature

“…Not all of the reported cases of familial granular cell tumors were confirmed with S-100 staining. In addition to our case, Rifkin et al (18) presented the only case of familial multiple granular cell tumors that reported using S-100 immunohistochemical stains to demonstrate expression in the tumors.…”

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

“…Apted 13 described the first case of MGCT with axillary freckling, which at that time was pathognomonic for NF‐1, then Martin 9 and more recently Sahn 19 described two additional cases of MGCT with axillary freckling and café‐au‐lait spots, suggestive for NF‐1. In three other cases, a diffuse lentiginosis was described, 11,14,16 highlighting an important relation with conditions where lentiginosis is sometimes associated with systemic defects, as in the cardio‐cutaneous syndromes and other syndromes, such as phakomatosis pigmentovascularis and xeroderma pigmentosum.…”

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

“…Of note, the daughter also had MGCT. It was postulated that the rare syndrome and the rare multiple tumors had a common origin (21). However, the constitutional molecular lesion in these patients was not defined.…”