Proteus syndrome in Southern Africa: Natural history and clinical manifestations on six individuals

Abstract

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Expanding the phenotype of the Proteus syndrome: A severely affected patient with new findings

“…Our patient had manifestations of the Proteus syndrome [Fay and Schow, 1968;Horton, 1971;Kontras, 1974;Cohen and Hayden, 1979;Temtamy and Rogers, 1976;Pawlaczyk and Sioda, 1976;Wiedemann et al, 1983;Lezama and Buyse, 1984;Gorlin, 1984;Burgio and Wiedemann, 1984;Costa et al, 1985;Muecke et al, 1985;Clark et al, 1987;Viljoen et al, 1987;Malamitsi-Puchner et al, 19871.…”

“…Recent reports review additional patients and manifestations of the Proteus phenotypes [Viljoen et al, 1987;Clark et al, 1987;Malamitsi-Puchner et al, 19871. As its name implies, this syndrome is quite variable but has its combination of distinctive anomalies.…”

Ambiguous genitalia in the Proteus syndrome

“…To the best of our knowledge, female pseudohermaphroditism has not been previously reported in the Proteus syndrome; however, Viljoen et al [1987] reported on a 2-year-old boy with the Proteus syndrome who had macro-orchidism and penile hypertrophy, without any other signs of virilization. Endocrine status was normal.…”

Scalp Hamartoma in Identical Twins

“…Riley-Smith syndrome, neurofibroma tosis, Wiedemann-Beckwith syndrome. Klippel-Trenaunay-Weber syndrome, cutis marmorata telangiectatica congenita, Cowden's disease, and nevus sebaceous of Jad assohn [17][18][19][20][21][22][23][24], In addition to their association with the aforementioned neurological syndromes, solitary scalp hamartomas may be confused with other scalp masses including communicating encephaloceles, meningoceles, cutaneous meningiomas, tumors of iatrogenic origin, scalp epidermoid tumors, fibroepithelioma of Pinkus, epithelioma of Malherbe, and more ominously, premalignant sebaceous nevi. angiosarcomas, and epithelioid sar coma [9][10][11][12][13][14][15][16].…”