Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia
| Autor: | Anna C. Thomas, L. Solman, Satyamaanasa Polubothu, Neil W. Bulstrode, Lisa Weibel, J. Obwegeser, Dalia Abdin, Raoul C.M. Hennekam, M. Barysch, Veronica A. Kinsler, Alistair Calder, N. Di Donato, R. Evans |
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| Přispěvatelé: | General Paediatrics, APH - Quality of Care, University of Zurich, Kinsler, V A |
| Rok vydání: | 2019 |
| Předmět: |
Hypertrichosis
medicine.medical_specialty Erythema 610 Medicine & health Dermatology 2708 Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine stomatognathic system Segmental odontomaxillary dysplasia medicine Odontodysplasia Humans 10220 Clinic for Surgery Depression (differential diagnoses) Hypopigmentation business.industry 10177 Dermatology Clinic Soft tissue Hyperplasia medicine.disease stomatognathic diseases medicine.symptom business Facial symmetry |
| Zdroj: | British journal of dermatology, 183(6), 1128-1130. Wiley-Blackwell |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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