Case reports A familial occurrence of lip anomaly Masoud Motasaddi Zarandy, MD * , Gilda Givehchi, Mahnaz Mohammadi Department of Otolaryngology, Faculty of Medicine, Tehran University of Medical Sciences, Amir Alam Center, Tehran, Iran Received 16 June 2004 This article was accepted in the International Federation of Oto-Rhino-Laryngological Societies Congress in Egypt, 2002. Abstract Lip pits are among the rarest congenital deformities recorded. Initially reported in 1845, its familial occurrence has been reported just once. These developmental anomalies occur either as an isolated defect or in association with other developmental deformities, including cleft lip, cleft palate, or both. They may be located at the commissures of the lips or at the midline of the lower lip. Lip pits are often inherited as an autosomal dominant trait with variable penetrance. Our report of a family in which all of the 3 children (2 girls and 1 boy) and their father were involved is in concert with the latter statement. D 2005 Elsevier Inc. All rights reserved. 1. Introduction Congenital lip pits are among the rarest congenital deformities recorded [1]. The first report was described in 1845 by Demarquay [2]. In 1951, Watanabe [3] found a total of only 100 cases reported in the literature. Since then, there has been just a single report of its familial occurrence in 18 members of a family [4]. Lip pits are developmental anomalies that occur either as an isolated defect or in association with other developmental disturbances [5], such as popliteal pterygium syndrome [6], Van der Woude syndrome [7], oral-facial-digital syndrome, and Marres and Cremers syndrome [8]. Van der Woude syndrome is an autosomal dominant condition and consists of combinations of cleft lip, cleft palate, and lip pits. Lip pits are caused by abnormal salivary glands [9]. Lip pits may develop at the commissures of the lips, which is more common, or at the midline of the lower lip. The latter, usually bilateral and symmetric midline depres- sions, develops on the vermilion border of the lower lip. These depressions represent fistulas lined by stratified squamous epithelium that traverse the underlying muscles for 5 to 25 mm and communicate with minor salivary glands through their excretory ducts. Viscous saliva can be expressed from the sinuses with pressure. Lip pits may be surgically excised if repeated infections become problematic or for cosmetic reasons [5]. 2. Case report Our case is a representation of development of lip pits in 4 members of a family, which was discovered incidentally in one of the members visiting our clinic (Figs. 1– 4). All of the 3 children (8- and 15-year-old girls and a 5-year- old boy) and their father (45 years old) were involved. No pathology was found in their systemic and ears, nose, and throat examinations, except for the presence of previously repaired unilateral incomplete cleft lip in the son. There was no history of either a familial marriage or similar problem in the other members of the family. The father (not in the photographs) had surgically excised his lip pits because of cosmetic reasons. 3. Discussion Fistulas represent failure of closure of evanescent sulci that appear in a 10- to 14-mm embryo [10]. The most logical explanations are those proposed by Wang and McComber [11]. The anomaly is attributable to a defective gene, which would explain the familial appearance and the frequent association with cleft lip, cleft palate, or both, or it may be the result of retardation or inhibition of a certain phase in the normal development of embryonic lower lip, hence, the constancy of location [1]. 0196-0709/$ – see front matter D 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.amjoto.2004.06.018 * Corresponding author. Department of Otolaryngology, Amiralam Hospital, Tehran, Iran, 1145 765111. Tel.: +98 9121097479. E-mail address: motesadi@sina.tums.ac.ir (M.M. Zarandy). American Journal of Otolaryngology –Head and Neck Medicine and Surgery 26 (2005) 132 – 134