Congenital soft tissue dysplasia: a new malformation entity and concept.
We report 185 children with clinical manifestations of various conditions classically described as giant hamartoma, angiodysplasia, congenital hypertrophy, congenital trophoedema, localised gigantism (e.g. macrodactyly), etc. It is proposed to group all these conditions into a single entity: congenital soft-tissue dysplasia (CSTD). According to recent advances in fundamental embryology and cell biology, CSTD appears to be a consequence of embryonal or fetal cell biosynthetic dysregulation. The concept of the CSTD entity leads to a common protocol for clinical investigation and a common therapeutic plan, with special reference to the stability and the benign nature of the condition. Treatment should be confined to improving function rather than attempting to correct cosmetic deficits.
Pellerin
D
D
Dept. of Paediatric Surgery, Hôpital des Enfants Malades, Paris, France.
Martelli
H
H
Latouche
X
X
Couly
G
G
Gasnier
F
F
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000150:complications / Q000473:pathology; D005260:Female; D006222:Hamartoma / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000473:pathology / Q000628:therapy; D009383:Neoplasms, Vascular Tissue / Q000150:complications / Q000151:congenital / Q000473:pathology / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000150:complications / Q000151:congenital* / Q000473:pathology / Q000628:therapy