Table 1 Phenotypic review of 13 patients with CLAPO
ID | Age a | Sex | Years of follow-up | Biological samples | PIK3CA mutation detected | CM lower lip (HPO:0005306) | LM (HPO:0100766) | Overgrowth (HPO:0001548) | VM (HPO:0012721) | Other CM | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | 40 | Male | 10.2 | Blood and affected skin tissue | + | Full lip | Bilateral lymphedema with predominance of foot-knee | Partial overgrowth of the right side of the body (+1.5 cm.) | Multiple varicose veins in the legs | Right area of the body, reddish color | — |
P2 | 17 | Female | 10.2 | Blood and affected skin tissue | + | 2 cm | Lower limbs | Left leg and right arm hypertrophy | — | Left inguinal region | — |
P3 | 20 | Male | 9.4 | Blood | N/S | Full lip | Tongue and mandibular region | Generalized | Neck | — | — |
P4 | 20 | Female | 10.1 | Blood and LM tissue | − | Full lip | Tongue and mandibular region | — | Neck | — | Pectus excavatum |
P5 | 16 | Female | 10.0 | Blood | N/S | 4 cm | Tongue and mandibular region | — | Neck | — | — |
P6 | 11 | Female | 10.2 | Blood and LM tissue | + | 2 cm | Tongue and mandibular region | — | Neck | Neck | — |
P7 | 18 | Female | 2.6 | Blood, CM tissue, and saliva | − | Full lip | Intraoral part of the lip | — | — | — | Multiple small melanocytic nevi in clavicle, back, and lumbar region |
P8 | 12 | Male | 2.0 | Blood and affected mucosa tissue | − | 3 cm | Cervicofacial region, tongue, gluteus | — | Neck | Right gluteus | Left facial paralysis and hypotonia |
P9 | 4 | Female | 1.5 | Blood and CM tissue | + | 3 cm | — | — | Neck | Multiple, extensive: right lower limb (genital and gluteal), face, neck | Presacral ganglioneuroma. |
P10 | 2 | Female | 1.5 | Blood, CM tissue and saliva | + | Full lip | Cervicofacial region, tongue | Segmental hypoplasia | Neck | Left hand, between the 4th and 5th fingers | Noneffective rapamycin treatment; ocular impairment due to LM; gastrostomy |
P11 | 5 | Male | 1.1 | Blood and saliva | N/S | Full lip | Cervicofacial region | — | Neck | Glabella and neck | — |
P12 | 4 | Male | 1.1 | Blood and saliva | N/S | Full lip | Cervicofacial region, tongue | — | Neck | Tongue and right ankle | — |
P13 | 7 | Female | 0.8 | Blood and LM tissue | + | Gingiva, no lip involvement | Tongue and mandibular region | — | Tongue and gingiva; possible VM in left hip | Hip | Propanolol not effective |
