Table 1. Major clinical manifestations of the PRO spectrum.
Disorder | Major clinical manifestations |
---|---|
MCAP | Macrocephaly, capillary malformations, brain overgrowth, distal limb defects, mental disability |
CLOVES | Mixed vascular malformations, adipose tissue overgrowth, scoliosis and skeletal overgrowth |
FAO/HMML | Progressive segmental overgrowth of fibrous and adipose tissue and bone |
ILM | Large lymphatic malformation limited to a single body site and without associated symptoms |
Macrodactyly | Localized overgrowth of a single or a few digits |
Hemimegalencephaly | Overgrowth of one cerebral hemisphere |
Muscle hemihyperplasia | Asymmetric muscular overgrowth |
Facial infiltrating lipomatosis | Diffuse infiltration of facial tissues by mature adipose tissue |
Epidermal nevi | Congenital verrucous skin plaques following Blaschko lines |
Seborrheic keratosis | Localized verrucous plaque occurring later in life, usually round and dark brown |
Benign lichenoid keratosis | Considered as a variant of seborrheic keratosis, flat red-brown skin plaque |
Abbreviations: CLOVES, capillary malformations, lipomatous overgrowth of adipose tissue, and scoliosis; FAO/HMML, fibroadipose overgrowth/hemihyperplasia-multiple lipomatosis; ILM, isolated large lymphatic malformation; MCAP, macrocephaly-capillary malformation.
Source: Adapted from Keppler-Noreuil et al.32