Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Abstract

A 6‐year‐old girl was referred for clinical evaluation. Her phenotype was characterized by an asymmetric face, dysmorphic skull with frontal‐parietal hyperostosis, hypertelorism, strabismus, long neck, and low‐set antiverted ears (Fig. 1). Her thorax was also dysmorphic with dropped shoulders because of the abnormal orientation of the scapulae and scoliosis. Moreover, the following features were evident: multiple abdominal lipomatous formations, muscle hypotonia and hypotrophia, lower limb heterometria, severe limitation of spinal articulation movements, congenital papular‐nodular nevus over the posterior axillary line, macrodactyly of the third and fourth right fingers, left hand smaller than the right, and thickening of the cutaneous tissues of the plantar surface of the foot with a gyrate and cerebriform aspect (Fig. 2). In addition, simple hypermetropic astigmatism of both eyes, exotropia and hypertrophy of the left eye, and dental caries were found. 1 Cranial and facial asymmetry with fronto‐parietal exostosis on the right side 2 Cerebriform bilateral plantar hyperplasia All routine blood examinations were within normal limits; electromyography disclosed a primary muscle disease. Thyroid ultrasound showed a dyshomogeneous structure with normal dimensions. Abdominal ultrasound showed a normal liver, gall bladder, and spleen; however, the pyelic cavities of the kidney were enlarged. Finally, molecular genetic analysis of the PTEN gene was negative. The clinical and instrumental features and the presence of significant cerebriform plantar hyperplasia allowed us to propose a diagnosis of Proteus syndrome.

The group of epidermal nevus syndromes

“…198 Among the specific criteria, cerebriform connective tissue nevi that preponderantly involve the soles (Fig 11) but may also be noted in other regions of the body are almost pathognomonic. 206 Additional anomalies include epidermal nevus, disproportionate overgrowth of arms or legs, often in the form of macrodactyly, facial dysmorphism, asymmetric skull, lung cysts, 207,208 lipomas, lymphangiomas, telangiectatic nevi, and ovarian cystadenomas. 21,198 Reported cerebral abnormalities comprise hemimegalencephaly, polymicrogyria, heterotopia of grey matter or neurons, dilated ventricles, hydrocephalus, porencephaly, and DandyeWalker complex.…”

PTEN Gene: A Model for Genetic Diseases in Dermatology

“…The cutaneous surface of PHTS patients leads one to suspect the disease being present, many times in a peculiar way. Main examples are speckled penis in BRRS [87] (Figure 2), plantar cerebriform hyperplasia in 70–80% of PS patients [88, 89] (Figure 3), and three or more trichilemmomas in CS [86]. …”

Proteus syndrome

“…It was described by Cohen and Hayden as a distinct clinical entity in 1979, but it was only in 1983 that Wiedeman would give its name. 3 - 6 The earliest case of Proteus syndrome was reported by Joseph Merrick and described by Treves, in the 19 th century. 3 , 5 , 7 …”