Cutaneous Manifestations of Proteus Syndrome

Proteus syndrome: An update

“…The subject has been reviewed elsewhere: historical delineation of Proteus syndrome [Cohen and Hayden, 1979;Wiedemann et al, 1983], Joseph Merrick [Cohen, 1986[Cohen, , 1988a, general references [Cohen, 1988b[Cohen, , 1993[Cohen, , 2002aBiesecker, 2001;Turner et al, 2004], somatic mosaicism hypothesis [Happle, 1987;Cohen, 2002a], diagnostic criteria [Biesecker et al, 1999;Turner et al, 2004], problems of misdiagnosis Cohen et al, 2003Cohen et al, , 2004Turner et al, 2004], premature death [Biesecker, 2000;Cohen, 2001;Slavotinek et al, 2001], cerebriform connective tissue nevus [Cohen and Hayden, 1979;Cohen, 1988bCohen, , 1993Cohen, , 1995Cohen, , 2002aNguyen et al, 2004;Turner et al, 2004], epidermal nevi [Biesecker et al, 1999;Cohen, 2002a;Nguyen et al, 2004;Turner et al, 2004], vascular malformations [Cohen, 1988b[Cohen, , 2002aBiesecker et al, 1998Biesecker et al, , 1999, dysregulated adipose tissue [Biesecker et al, 1999;Cohen, 2002a;Nguyen et al, 2004], cutaneous manifestations [Nguyen et al, 2004], skeletal manifestations [Jamis-Dow et al, 2004], ...…”

“…Nevi are asymmetrically located and often multiple; they may be found on the neck, abdomen, flank, or extremities. Histopathological findings consist of acanthosis and hyperkeratosis [Cohen and Hayden, 1979;Cohen, 1988bCohen, , 2002aNguyen et al, 2004] (Figs. 9 and 10).…”

“…9 and 10). In three or four instances, an isolated café-au-lait spot has been noted [Cohen and Hayden, 1979;Nguyen et al, 2004]. Patchy areas of dermal hypoplasia and hypopigmentation have also been observed [Nguyen et al, 2004].…”

“…It tends to occur on the trunk and limbs, resulting in accentuated bony contours. Dermal hypoplasia with reddish plaques of thinned skin may involve the the lower limbs, resulting in prominently appearing veins [Nguyen et al, 2004] (Fig. 12).…”

Giant chondrolipoma of the tongue in a 14-year-old child with mandibular hypertrophy. Isolated lesion or regional overgrowth syndrome

“…Proteus syndrome involves all three germ layers and includes partial gigantism of the hands and/or feet; connective tissue or epidermal hamartoma; subcutaneous tumours (lipoma, lymphangioma and hemangioma); cranial hyperostosis; genitourinary, thoracic, gastrointestinal and otolaryngological abnormalities 8 .…”