Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia.

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia.
Br J Dermatol. 2020 Jun 25;:
Authors: Polubothu S, Abdin D, Barysch M, Thomas A, Bulstrode N, Evans R, Solman L, Obwegeser J, Hennekam RC, Weibel L, Calder A, Di Donato N, Kinsler VA
Abstract
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.
PMID: 32585735 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - June 24, 2020 Category: Dermatology Authors: Polubothu S, Abdin D, Barysch M, Thomas A, Bulstrode N, Evans R, Solman L, Obwegeser J, Hennekam RC, Weibel L, Calder A, Di Donato N, Kinsler VA Tags: Br J Dermatol Source Type: research