[Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases].
In 1979 Cohen et Hayden and in 1983 Wiedemann et al. delineated a syndrome consisting of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Hitherto the literature pertaining to this syndrome consists of somewhat more than 100 cases of which some, that have been described previously or subsequently under other headings, were rediagnosed as being Proteus syndromes. Of these, more than half show vascular anomalies closely resembling those observed in the Klippel-Trenaunay syndrome, but in the Proteus syndrome appear to be more haphazardly distributed over the integument. We report 3 pediatric patients with the Proteus syndrome, all showing cutaneous angiodysplasias. These patients were initially diagnosed as suffering from "severe or atypical Klippel-Trenaunay syndrome". In one of these, cardiac tumors were observed soon after birth which subsequently showed spontaneous involution and were therefore considered to be rhabdomyomas. In the Proteus syndrome cardiac pathology is rare, and cardiac tumors have not been described previously. Moreover, we observed umbilical hernia in two of our patients, a feature which has hitherto not been reported in patients with the Proteus syndrome. In all our patients a broad thoracic cage resembling a "body-builders chest", asymmetrical and disproportional macrodactyly and broad, flat feet were conspicuous. These broad, flat feet with macrodactyly and large spaces between the first and second digits were designed by the parents of one of our patient as "chimpanzee's feet". Macrodactyly, "chimp's" feet and a broad thoracic cage are considered by us to be clinical hallmarks of the Proteus syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
Hulsmans
R F
RF
Service de Dermatologie, Hôpital Universitaire de Maestricht, Pays-Bas.
Schrander-Stumpel
C R
CR
Koopman
R J
RJ
Hoorntje
T M
TM
Starink
T M
TM
D016888:Angiodysplasia / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006338:Heart Neoplasms / Q000473:pathology; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D007223:Infant; D007715:Klippel-Trenaunay-Weber Syndrome / Q000473:pathology; D008297:Male; D010641:Phenotype; D016715:Proteus Syndrome / Q000473:pathology*; D012207:Rhabdomyoma / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology; D013909:Thorax / Q000002:abnormalities
Le syndrome de protée. L'expansion du phénotype. A propos de trois cas pédiatriques.