Pai syndrome: a review
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REVIEW ARTICLE
Pai syndrome: a review Francesca Olivero 1,2
&
Thomas Foiadelli 1,2
&
Sabino Luzzi 2,3
&
Gian Luigi Marseglia 1,2
&
Salvatore Savasta 1,2
Received: 20 January 2020 / Accepted: 30 June 2020 # The Author(s) 2020
Abstract Background Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once. Objective The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features. Methods We analyzed the PubMed database using the words “Pai syndrome”, “frontonasal dysplasia”, “cleft lip”, “nasal polyp”, “facial polyp”, and “corpus callosum lipoma”, including reviews, case reports and case series. Conclusion There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up. Keywords Pai syndrome . Frontonasal dysplasia . Cleft lip . Nasal polyp . Facial polyp . Corpus callosum lipoma
Introduction Pai syndrome is a rare condition, defined as a syndromic form of frontonasal dysplasia [1, 2]. It was first described by Pai et al. as “an unusual combination of three rare developmental anomalies: complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system” [2]. It has a high phenotypical variability, and most of the cases described in literature do not meet the full triad of criteria originally defined by Pai, which is a relatively restrictive definition [3]. About sixty cases of Pai syndrome have been described in literature up to date. Among them, only 19 patients met the
* Francesca Olivero [email protected] 1
Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
2
Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy
3
Neurosurgery Unit, Department of Surgical Sciences, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
full triad of criteria originally described by Pai, while the majority showed great phenotypical variability [3]. In 2019, Morice et al. defined Pai syndrome as the association of a congenital nasal and/or mediofrontal skin mass and/or a midanterior alveolar process polyp as a mandatory criterion, and at least one other criterion: midline cleft lip and/or midline alveolar cleft, and/or a pericallosal
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