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Special Feature
May 2000

Pathological Case of the Month

Arch Pediatr Adolesc Med. 2000;154(5):527-528. doi:

Diagnosis and Discussion: Proteus Syndrome

Figure 1. Epidermal nevus on right posterior neck.

Figure 2. Cerebriform hyperplasia of the right sole.

Figure 3. Findings from biopsy specimen obtained from the right second toe showing dermal fibrosis (hematoxylin-eosin, original magnification ×150).

Figure 4. Trichrome stain of biopsy specimen seen in Figure 3 showing dermal fibrosis (original magnification ×150).

In Greek mythology, Proteus was the "Old Man of the Sea." He could change shape at will to avoid capture. The term Proteus syndrome was first used by Wiedmann et al1 in 1983 to describe this condition with polymorphous clinical manifestations. It is a congenital hamartomatous condition of unknown cause that affects all 3 germ layers and results in asymmetrical overgrowth of almost any part of the body.

Proteus syndrome is a heterogeneous collection of clinical findings. Darmstadt and Lane2 have developed a scoring system to aid in its diagnosis (Table 1). Based on this system, our patient scored 15.5 points. Proteus syndrome shares features in common with many other hamartomatous conditions, such as Klippel-Trenaunay syndrome, Parkes-Weber syndrome, neurofibromatosis type I, and encephalocraniocutaneous lipomatosis. However, cerebriform hyperplasia of the soles and/or palms is only found in Proteus syndrome, and it is considered by some to be a pathognomonic sign of this disorder.3 This finding may not develop as quickly as the other features of Proteus syndrome, as was the case in our patient. The most important aspect in caring for these patients is to adapt a multidisciplinary approach. Reconstructive surgery offers the best chance of rehabilitation; therefore, early consultation with plastic and orthopedic surgeons is important. Although the cause is unknown, 2 cases of possible parent-to-child transmission have been reported, indicating that this may be in some cases an inherited disorder, and therefore, consultation with a geneticist may also be important.4,5

Scoring System for Diagnosis of Proteus Syndrome*
Scoring System for Diagnosis of Proteus Syndrome*

Accepted for publication September 1, 1998.

Presented as a poster at the 56th Annual Meeting of the American Academy of Dermatology, Orlando, Fla, February 27-March 4, 1998.

Reprints: Sheryll L. Vanderhooft, MD, Department of Dermatology, University of Utah Health Sciences Center, 50 N Medical Dr, Salt Lake City, UT 84132.

Wiedmann  HRBurgio  GRAldenhoff  P  et al.  The Proteus syndrome.  Eur J Pediatr. 1983;1405- 12Google ScholarCrossref
Darmstadt  GLLane  AT Proteus syndrome.  Pediatr Dermatol. 1994;11222- 226Google ScholarCrossref
Hotamisligil  GS Proteus syndrome and hamartoses with overgrowth.  Dysmorphol Clin Genet. 1990;487- 102Google Scholar
Goodship  JRedfearn  AMilligan  D  et al.  Transmission of Proteus syndrome from father to son?  J Med Genet. 1991;28781- 785Google ScholarCrossref
Pelz  GKLWiedmann  HR Transmission of Proteus syndrome from mother to son?  Am J Med Genet. 1993;45117- 118Google ScholarCrossref