[en] Proteus syndrome exhibits an expanded phenotype. We report a case with restricted macrodactyly and cerebriform hypertrophy of one palm. The differential diagnosis with macrodactyly and other hamartomatous overgrowth syndromes is discussed.
Disciplines :
Dermatology
Author, co-author :
Fraiture, Anne Laure; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Ihou, E David
Pierard, Gérald ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Viljoen, D.L., Saxe, N., Temple-Camp, C., Cutaneous manifestations of the Proteus syndrome (1988) Pediatr Dermatol, 5, pp. 14-21
Piérard, G.E., Piérard-Franchimont, C., Ben-Mosbah, T., Al Rustom, K., Aspects communs des hyperplasies conjonctives du syndrome de Protée et des collagénomes (1991) Ann Dermatol Vénéréol, 118, pp. 788-790
Ben Mosbah, T., Piérard-Franchimont, C., Verloes, A., Goffin, F., Lesuisse, M., Dodinval, P., Piérard, G.E., Le syndrome de Protée et ses altérations conjonctives cutanées (1991) G Int Dermatol Pediatr, 3, pp. 83-88
Boente, M.C., Frontini, M., Asial, R.A., Juarez, C.A., Hyperplasia of plantar connective tissue and macrodactyly: A mild form of Proteus syndrome? (1996) Eur J Dermatol, 6, pp. 87-90
Lacombe, D., Battin, J., Isolated macrodactyly and Proteus syndrome (1996) Clin Dysmorphol, 5, pp. 255-257
Cavero, J.A., Castro, E.G., Junco, L., Proteus syndrome (2000) Int J Dermatol, 39, pp. 707-709
Yasuda, H., Yamamoto, O., Hirokawa, H., Asahi, M., Kashimura, M., Sakai, A., Proteus syndrome (2001) Dermatology, 230, pp. 180-184
Piérard, G.E., Lapière, Ch.M., Nevi of connective tissue: A reappraisal of their classification (1985) Am J Dermatopathol, 7, pp. 477-488
Happle, R., Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin (1987) J Am Acad Dermatol, 16, pp. 899-906
Cohen, M.M., Proteus syndrome: Clinical evidence for somatic mosaicism and selective review (1993) Am J Med Genet, 47, pp. 645-652
Barsky, A.J., Macrodactyly (1967) J Bone Joint Surg, 49, pp. 1255-1266
Kalen, V., Burwell, D.S., Omer, G.E., Macrodactyly of the hands and feet (1988) J Pediatr Orthop, 8, pp. 311-315
Krengel, S., Fustes-Morales, A., Carasco, D., Vasquez, M., Duran-McKinster, C., Ruiz-Maldonado, R., Macrodactyly: Report of eight cases and review of the literature (2000) Pediatr Dermatol, 17, pp. 270-276
Patel, M.E., Silver, J.W., Lipton, D.E., Pearlman, H.S., Lipofibroma of the median nerve in the palm and digits of the hand (1979) J Bone Joint Surg, 3, pp. 393-397
Silverman, T.A., Enzinger, F.M., Fibrolipomatous hamartoma of nerve: A clinicopathologic analysis of 26 cases (1985) Am J Surg Pathol, 9, pp. 7-14
Warhold, L.G., Urban, M.A., Bora, W., Brooks, J.S., Peters, S.B., Lipofibromatous hamartomas of the median nerve (1993) J Hand Surg, 18, pp. 1032-1037
Ban, M., Kamiya, H., Sato, M., Kitajima, Y., Lipofibromatous hamartoma of the median nerve associated with macrodactyly and port-wine stains (1998) Pediatr Dermatol, 15, pp. 378-380
D'Costa, H., Hunter, J.D., O'Sullivan, G., O'Keefe, D., Jenkins, J.P.R., Hughes, P.M., Magnetic resonance imaging in macromelia and macrodactyly (1996) Br J Radiol, 69, pp. 502-507
Turra, S., Frizziero, P., Cagnoni, G., Jacopetti, T., Macrodactyly of the foot associated with plexiform neurofibroma of the medial plantar nerve (1986) J Pediatr Orthop, 6, pp. 489-492
Cohen, M.M., Overgrowth syndromes: An update (1999) Adv Pediatr, 46, pp. 441-491
Bialer, M.G., Riedy, M.J., Wilson, W.G., Proteus syndrome versus Bannayan-Zonana syndrome: A problem in differential diagnosis (1988) Eur J Pediatr, 148, pp. 122-125
Miyawaki, T., Kinoshita, Y., Lizuka, T., A case of Ollier's disease of the hand (1997) Ann Plast Surg, 38, pp. 77-80