Oral-Facial-Digital Syndrome Type 1: A Case Report and Review.
| Autor: | Ko YW; Department of Dermatology, Hanyang University Medical Center, Seoul, Korea., Ko JY; Department of Dermatology, Hanyang University Medical Center, Seoul, Korea., Ro YS; Department of Dermatology, Hanyang University Medical Center, Seoul, Korea., Kim JE; Department of Dermatology, Hanyang University Medical Center, Seoul, Korea. |
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| Jazyk: | angličtina |
| Zdroj: | Annals of dermatology [Ann Dermatol] 2022 Apr; Vol. 34 (2), pp. 132-135. Date of Electronic Publication: 2022 Mar 24. |
| DOI: | 10.5021/ad.2022.34.2.132 |
| Abstrakt: | Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anomalies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature. Competing Interests: CONFLICTS OF INTEREST: The authors have nothing to disclose. (Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology.) |
| Databáze: | MEDLINE |
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