Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child

Abstract

Introduction: Oral-facial-digital syndrome (OFDS) is a rare type of ectodermal dysplasias characterized by malformations of the face, oral cavity, and digits. The OFDS type 1 is most common and has an X-linked dominant inheritance. Case report: We report a child with a single patch of scalp alopecia who was found to have typical oral malformations such as high arched palate, accessory frenulae, tongue hamartoma, and dentition abnormalities. . She had associated central nervous system malformations and was diagnosed with OFDS 1. Discussion: The case highlights importance of recognizing this syndrome to detect systemic abnormalities on time.

Keywords

• ectodermal dysplasia
• magnetic resonance imaging
• ciliopathies
• hair
• dermoscopy