The extremely rare Proteus Syndrome is a hamartomatous congenital syndrome with substantial variability between clinical patient presentations. The diagnostic criteria consist of a multitude of clinical findings including hemihypertrophy, macrodactyly, epidermal nevi, subcutaneous hamartomatous tumors, and bony abnormalities. These clinical findings correlate with striking radiographic findings.

The literature pertaining to macrodactyly is sparse (F#{232}vre and Bricage 1936, Clifford 1959, Laurenzi 1962) and a clear concept of its pathogenesis does not yet exist. The most popular theory relates the condition to neurofibromatosis (Moore 1942, Inglis 1950, Mouly and Debeyre 1961). Among the cases reported some were in children (Moore 1942, Inglis 1950) but, so far as is known, studies i...

Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue an...

A 3-month-old girl presented with generalized marbling of the skin (cutis marmorata) and a striking port wine stain on philtrum present since birth (Figures 1 2). bilateral sandal gap between great second toes (Figure 3), macrodactyly left toe, overgrowth both feet, hands, her right leg as well joint hypermobility were noted. Upon physical neurologic examination, including measurement head circ...

Lipofibromatous hamartoma is a rare tumour-like condition involving the peripheral nerves, particularly the median nerve. It commonly affects the volar aspect of the hands, wrists and forearms of young adults. Most patients present either early with macrodactyly or later with a forearm mass lesion or symptoms consistent with compressive neuropathy of the involved nerve. The clinical and histomo...