Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Description
Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007).
Clinical FeaturesPai syndrome is a rare disorder combining median cleft upper lip and polyps of the facial skin and nasal mucosa (Sharma, 1974; Ponniah, 1977; Nakamura et al., 1985; Pai et al., 1987). In addition, midline lipomas of the central nervous system are part of the syndrome, as described by Pai et al. (1987).
Reardon et al. (1990) described a fifth patient with the combination of midline clefting of the upper lip in association with nasal polyps. The polyps are located over the nasal septum or extend from the nostril from an attachment to the nasal septum. All 5 reported cases have been isolated. Reardon et al. (1990) provided a list of 19 disorders with midline cleft upper lip.
Rudnik-Schoneborn and Zerres (1994) described the case of the first-born child of an unrelated couple who was found to have pedunculated cutaneous masses extending from the left nostril and the nasal bridge. Additional skin tags containing cartilage were seen on his broad forehead. The eyes were widely spaced with downward slanting palpebral fissures. There was a median cleft lip and by cranial ultrasound and CT scan a lipoma of the corpus callosum and an abnormal configuration of the third ventricle were demonstrated. The uvula was bifid and the palate high. The 31-year-old father showed some similarities in facial appearance to his son, although neither a cleft lip nor the skin polyps were found. He had been seen in several children's hospitals in the first 2 years of life because of a complete coloboma of the right iris. Moreover, hydrocephalus had been suspected because of his broad forehead and downward slanting palpebral fissures. His development had been entirely normal. A CT scan at the age of 31 years showed an abnormally shaped right eyeball that was otherwise unremarkable. Rudnik-Schoneborn and Zerres (1994) reported that the patient with median cleft of the upper lip and CNS lipoma reported by Pai et al. (1987) was then 7 years old and had no mental impairment or other clinical abnormalities.
Al-Mazrou et al. (2001) described Pai syndrome in one of monozygotic female twins.
Lees et al. (2006) described a family with midline nasal dermoids in 4 members over 5 generations. Two of these individuals also had a midline cleft lip. The pattern of inheritance appeared to be autosomal dominant with variable expression. Lees et al. (2006) noted the clinical overlap with Pai syndrome; the differences included nasal dermoids rather than nasal polyps, and the absence of lipoma of the corpus callosum in their 2 patients who underwent cranial imaging.
Guion-Almeida et al. (2007) reported 7 South American patients with Pai syndrome. The phenotype was clinically variable and 5 of the patients were severely affected.
CytogeneticsMasuno et al. (1997) described a Japanese girl with a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2), and some clinical signs of Pai syndrome, including median cleft of the upper lip and pedunculated skin masses on the nasal septum. She was also short and had mental retardation.