TY - JOUR
T1 - Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia
AU - Polubothu, S.
AU - Abdin, D.
AU - Barysch, M.
AU - Thomas, A.
AU - Bulstrode, N.
AU - Evans, R.
AU - Solman, L.
AU - Obwegeser, J.
AU - Hennekam, R. C.
AU - Weibel, L.
AU - Calder, A.
AU - di Donato, N.
AU - Kinsler, V. A.
PY - 2020/12
Y1 - 2020/12
N2 - Segmental odontomaxillary dysplasia (SOD) is a rare condition of unknown incidence, with approximately 60 cases reported (as reviewed in 2018)1 . It presents at birth or during childhood with a constellation of ipsilateral facial signs: non-progressive/slowly-progressive overgrowth or undergrowth of soft tissues and/or bones (typically centred on the posterior maxilla, and leading to facial asymmetry), dental anomalies (missing teeth or abnormal dentition), gingival hyperplasia or abnormal gingivae, commissural lip fissures, hypertrichosis, cutaneous hyperpigmentation and/or erythema, cutaneous depression, and lip hypopigmentation.
AB - Segmental odontomaxillary dysplasia (SOD) is a rare condition of unknown incidence, with approximately 60 cases reported (as reviewed in 2018)1 . It presents at birth or during childhood with a constellation of ipsilateral facial signs: non-progressive/slowly-progressive overgrowth or undergrowth of soft tissues and/or bones (typically centred on the posterior maxilla, and leading to facial asymmetry), dental anomalies (missing teeth or abnormal dentition), gingival hyperplasia or abnormal gingivae, commissural lip fissures, hypertrichosis, cutaneous hyperpigmentation and/or erythema, cutaneous depression, and lip hypopigmentation.
UR - http://www.scopus.com/inward/record.url?scp=85090007858&partnerID=8YFLogxK
U2 - https://doi.org/10.1111/bjd.19339
DO - https://doi.org/10.1111/bjd.19339
M3 - Comment/Letter to the editor
C2 - 32585735
SN - 0007-0963
VL - 183
SP - 1128
EP - 1130
JO - British Journal of Dermatology
JF - British Journal of Dermatology
IS - 6
ER -