Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa

Alternative Names

  • Pai Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

155145

Mode of Inheritance

Autosomal dominant

Description

Pai Syndrome is a rare congenital disorder characterized by the triad of a median cleft of the upper lip, intracranial lipoma, and cutaneous polyps. Congenital nasal polyps are the cardinal feature of this condition, with the number of nasal polyps ranging from one to three.  These polyps are most commonly found on the nostrils, followed by the columella.  Histologically, these polyps have been identified as hamartomas.  The median cleft phenotype of this condition shows a wide range of severity, from a midline notch of the upper vermillion to complete cleft extending up to the columella base.  In some patients, the cleft is accompanied with duplication of the median maxillary frenulum.  Skin lipomas containing cartilage may be seen on the forehead.  A number of facial dysmorphpic features have been reported in the patients.  However, only two dysmorphic signs, hypertelorism and nasal cleft, seem to significantly associate with the clinical spectrum.  Some affected patients also feature hypertelorism with ocular anomalies, including anterior segment dysgenesis, persistent papillary membrane, corneal leukoma, microcornea, posterior lenticonus, heterochromia iris and conjunctival lipoma.  Neuropsychological development is usually normal. 

Pai Syndrome is extremely rare, with less than 50 patients being reported worldwide with this condition.  Diagnosis is made on the basis of the clinical features.  Since congenital nasal polyps have so far been seen in all affected patients, it is a key feature in the diagnosis and due to its rare nature is extremely helpful in considering the differential diagnoses.  Nasal polyps may result in respiratory impairment, increased respiratory infections, speech impediments or early childhood difficulties in eating solids.  Detection of potential oral or respiratory difficulties in newborns must be treated immediately. Multistage craniofacial surgery may be necessary in many cases.  Prognosis is generally good.

The etiology of Pai Syndrome is unknown, although some researchers have proposed that a genetic defect in mesodermal differentiation could account for the clinical features.  The disease seems to follow an autosomal dominant mode of inheritance, although X-linked or recessive inheritance has also been proposed.  A single patient was found to have a de novo reciprocal translocation, 46,X,t(X;16)(q28:q11.2).

Epidemiology in the Arab World

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Other Reports

Qatar

Abdelmaaboud and Nimeri (2012) reported the first case of Pai Syndrome in a Qatari.  The male fetus was diagnosed with upper lip and palate cleft at 25 weeks gestational age.  Upon birth, the neonate was found to have a severe complete median cleft lip and palate with multiple facial cutaneous polyps on the right nostril, ears and angle of the mouth.  Ocular examination revealed hypopigmented fundi, pigmented rings around both discs, and hypopigmented maculae.  CT head showed midline calcification suggestive of midline brain anomaly.  MRI brain also showed hypogenesis of corpus callosum, mildline paracallosal calcifications and lipomas.  All other investigations were normal.  The skin polyp on the right nostril was resected, and histological examination of the mass revealed a fibroepithelial polyp.

Saudi Arabia

Al-Mazrou et al. (2001) described a neonate with Pai Syndrome.  The 4-day old girl, born to first degree consanguineous parents, presented with multiple intra and perinasal swellings identified at birth.  There were three polypoidal skin covered masses: one pedunculated and attached to the left side of the nasal septum, one attached to the base of the columella, and another one attached to the oral surface of the upper lip.  Biopsy of the polyps showed mature adipose tissue.  CT of the nasal cavity and brain revealed pericallosal lipoma, which was confirmed by MRI at 2-years of age.  No callossal dysgenesis was noted.  Her growth and development up to 3-yaers of age at least was normal.  Interestingly, her monozygous twin showed no such anomalies.

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