The multiple faces of artwork diagnoses.

Bianucci and colleagues [2016], infer that the (dwarf) maid painted by Andrea Mantegna [1431-1506 [in the court scene of “The Bridal Chamber,” at Mantua's Ducal Palace (Italy, 1465–1474), has NF1 associated with hypopituitary dwarfism. They base their diagnosis of NF1 on the following features: multiple (i) neurofibromas and (ii) café-au-lait spots; (iii) Lisch nodules; (iv) large head; and (v) a deformed finger; and the diagnosis of hypopituitarism on a preceding diagnosis. In the present article, authors oppose that the features (and location) of the skin nodules in the fresco fit more with a diagnosis of hard fibromas of the skin commonly seen during senescence (or that the “nodules” are just dirt incrustations belonging to the pre-restoration version of the fresco, assuming that Bianucci et al., 2016 have not seen and comment the post-restoration version of the fresco); the pigmentary changes interpreted as café-au-lait spots are in atypical locations or more likely are intrinsic pigmentary changes belonging to the texture and the state of preservation of the fresco; the pigmentary changes portrayed in both irises of the maid hardly could be interpreted as Lisch nodules without slit-lamp examination rather could be either pre-restoration dots (almost totally disappeared in the post-restorian fresco) or intrastromal (hyperpigmented) nevi of the iris or iris ridges; the deformations of the left finger (i.e., a short bone) is not a specific sign of NF1; and lastly, shorter than average stature (rather than dwarfism) is a NF1 stigmata. The phenotype of the woman (i.e., marked short stature with relative macrocephaly, low nasal bridge, midfacial hypoplasia, rhizomelic shortening of limbs, and small hands) is interpreted as Kniest dysplasia or other metatropic dwarfism.