Abstract Proteus syndrome is a rare hamartomatous condition comprising overgrowth of some part of the body in association with various cutaneous, neurovascu- lar, musculoskeletal, and other organ systems. In some cases, there is a family history. The case presented is that of a 6-year-old boy with left hemihypertrophy, wide- spread capillary hemangiomatosis in the extremities, a pigmented nevus on the right forearm, macrosyndactyly of the second and third fingers, together with a history of urolithiasis. The literature on this rare syndrome is reviewed. Key words Proteus syndrome · Hemihypertrophy · Syndactyly · Hemangiomatoses Introduction Proteus syndrome is part of the congenital hamartomat- oses and has polymorphic features. The main features of the syndrome were delineated in 1979 by Cohen, and in 1983 by Wiedemann et al. [11,53]. The relevant litera- ture on this syndrome consists of more than 150 cases. There are growth disturbances of the ectodermal and me- sodermal tissue. The most prominent clinical aspect is dysgenesis of musculoskeletal tissue. General features are partial gigantism of hand and feet, pigmented nevus, hemihypertrophy, cutaneous and cranial anomalies. The mild form of this syndrome may be missed on examina- tion. Facial anomalies Mandibular hemihypertrophy, mandibular prognathism, and exostoses of the jaw may be present [24,30,37). On intraoral examination, recurrent gingival hyperplasia and enamel hypoplasia of the primary and permanent teeth must be looked for [1,30]. Overgrowth of the cartilage of the condyle may cause a dentofacial asymmetry [25]. Strabismus and retinopathy can be found in these cases [2]. There may also be eyelid and scleral tumors [28,46]. Cranial anomalies Skull asymmetry, such as macrocephaly, protuberance of the skull, hydrocephalus, bony protrusion of the cranial vertex, plagiocephaly, and frontal bossing may be pres- ent [2,4,10,44]. In addition to the asymmetries, there may be cranial bone hyperplasia, ossification of the meninges, and intracranial bony hypertrophy [22,23]. These patients must be investigated for multiple menin- giomas, cavernous hemangiomas, and brain develop- mental anomalies [20,23]. The cranial pathologies may cause seizures and dural sinus thrombosis [15,20]. Neurologic and mental anomalies Neurological symptoms may be the result of bony changes or compression of the neural tissues by tumors. Spinal stenosis may lead to neurologic sequelae [45]. Contralateral progressive hemiplegia has been reported [33]. Angiolipomatotic mass may cause progressive paraplegia [40]. Median nerve compression may occur, because of the nerve hypertrophy or lipofibromatous hamartoma [9,32]. Mental retardation, speech retarda- tion, and anticonvulsant therapy-resistant seizures may be seen [42,44]. Generalized seizures may start during the early neonatal period or later. Hemimegaly of the op- tic nerve, dysmyelination, and compression of corpus callosum are the another neurologic pathologies [12]. M. Tercan ( ✉ ) Department of Plastic and Reconstructive Surgery, Gaziantep University, Kolejtepe 27070 Gaziantep, Turkey e-mail: mtercan@usa.net Tel.: +90-342-336-5404, Fax:+90-342-336-5505 C. Yakinci · O. Kutlu · Y. Durmaz Department of Pediatrics, T. Ozal Medical Center, Malatya, Turkey C. Demir Department of Plastic and Reconstructive Surgery, T. Ozal Medical Center, Malatya, Turkey Eur J Plast Surg (2000) 23:379–382 © Springer-Verlag 2000 CASE REPORT M. Tercan · C. Yakinci · O. Kutlu · C. Demir Y. Durmaz Proteus syndrome: a case report and review of the literature Received: 6 August 1999 / Accepted: 15 June 2000