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Introduction:
Congenital pits of the lip are uncommon and may be associated with conditions such as Van der Woude syndrome. Isolated lip pits are extremely rare developmental defects.
Presentation of case:
A 7 year old Caucasian girl presented to plastic surgery clinic in Jordan University academic hospital complaining of an upper lip pit that h...
Contexts in source publication
Context 1
... et al. [5] reported 33 cases through 1995. We reviewed the literature for new cases in the past two decades 1996-2016, we found 22 new cases including our reported case (Table 1). ...
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... other anomalies were present (type II), median cleft lip (7/55) and frenal anomaly (3/55) were the most common associated ones. Other reported anomalies were: Pierre-Robin syndrome, unilateral cleft lip, dorsum of nose sinuses, asymmetrical nasal opening, preauricular fistula, notch of vermillion, intra oral fibroid polyp, midline alveolar process cleft and grooving, bifid uvula, notching of posterior nasal spine and ankyloglossia (Table 1). ...
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... et al. [5] reported 33 cases through 1995. We reviewed the literature for new cases in the past two decades 1996-2016, we found 22 new cases including our reported case (Table 1). ...
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... other anomalies were present (type II), median cleft lip (7/55) and frenal anomaly (3/55) were the most common associated ones. Other reported anomalies were: Pierre-Robin syndrome, unilateral cleft lip, dorsum of nose sinuses, asymmetrical nasal opening, preauricular fistula, notch of vermillion, intra oral fibroid polyp, midline alveolar process cleft and grooving, bifid uvula, notching of posterior nasal spine and ankyloglossia (Table 1). ...
Citations
... Congential sinus of upper lip are even more uncommom. 2,3 Despite its rarity, the diagnosis and treatment can be easily made based on its characteristic clinical presentation. To our knowledge, there are about 55 examples, 3 but there are rare published reports using ultrasonography to assess this disease. ...
... Prior studies have shown that most cases of midline upper lip were sinus, but some cases were fistulae through the orbicularis. 3 The most common standard methods used to revealed the distal side, namely fistula probes or methylene blue dye, 2,3 is highly invasive, while ultrasound is a less invasive testing method. 4 Of course, CT is sometimes necessary, but CT carries the risk of radiation exposure. ...
Ultrasound is a minimally invasive examination method. Previous examinations have shown that the most common standard methods used to reveal the distal aspect of the congenital labial sinus, fistula probe or methylene blue dye, are highly invasive and ultrasound is less invasive. Of course, there are cases where CT is necessary, but CT carries the risk of radiation exposure.
... 24 A midline sinus of the upper lip is extremely rare and infrequently reported in the literature. [25][26][27][28][29] The skin orifice is often located in the midline of the upper lip ( Figure 3). ...
... The clinical presentation ranges from asymptomatic to cosmetic concerns, recurrent infections, or a discharge. [25][26][27][28][29][30] Pathogenesis, Classification, and Accompanying Anomalies Existing literature provides 3 theories regarding the pathogenesis of upper lip sinuses. The invagination theory proposes that upper lip sinuses are formed by failure of ectodermal invagination of the nasal placodes during the frontonasal process. ...
... 28,30 Ultrasound Approach and Findings and Recommendations for Other Modalities The distal side is a blind tract or a fistula through the orbicularis oris muscle. 25 The fistula is revealed as a hypoechoic tract arising from the skin orifice and ascending toward the maxilla. If the distal side is clearly evaluated by US, no further studies might be needed. ...
A dermal sinus/fistula is a common condition; the relevant department should be consulted for appropriate treatment. It is important for radiologists to have adequate knowledge of these conditions to provide the correct diagnosis and recommend subsequent management. This review describes the following lesions: preauricular sinus, midline sinus of the upper lip, nasal dermoid sinus cyst, cheek fistula, first branchial cleft anomaly/sublingual branchial cleft anomaly, thyroglossal duct cyst/fistula, lateral cervical sinus/fistula, congenital dermal sinus/fistula of the anterior chest region, congenital skin sinus/fistula with a sternal cleft, and congenital prepubic sinus. On the basis of the skin orifice location and ultrasound images, radiologists can provide useful information to physicians.
Congenital lip pits are characterized by sinuses or fistulas in the lips that can occur in isolation or as part of a genetic disorder. A 6-year-old girl with a right upper lip lesion present at birth presented with recurrent swelling and occasional erythema. Examination revealed a mildly swollen punctum at the right upper wet/dry vermillion with expressible serous drainage. There were no other phenotypic or cognitive concerns. The lesion was surgically excised using vertical wedge resection. The postoperative course showed well well-healed incision. The pathology report confirmed a lip pit. The family was referred to genetics for further evaluation. Van der Woude syndrome (VWS) is a genetic disorder associated with abnormal development of the paramedian lip. Most congenital lip pits are primarily found on the lower lips, with paramedian lip pits being the most common. Upper lateral lip pits with or without accompanying lip pits are considerably rarer. Though VWS is commonly associated with mutations in the interferon regulatory factor 6 or grainyhead-like protein 3 genes, ~25% of affected individuals lack an identified genetic etiology. A high index of suspicion for VWS is warranted if lip pits are present in the absence of other phenotypic abnormalities and should prompt genetic testing for interferon regulatory factor 6 and grainyhead-like protein 3 mutations. Multidisciplinary teams should consider patient self-esteem, quality of life, and potential family planning when deciding on surgical intervention for lip pits. Surgical management of pits should entail tissue-preserving techniques such as vertical wedge resection and inverted T-lip reduction to prevent whistle-lip deformity.
Congenital upper lip sinus (CULS) is an extremely rare anomaly. The aim of the study is to present a new case and compile the present knowledge of CULS to help foster a deeper understanding of this disease. A 9-year-old girl with a midline CULS, a prolonged maxillary labial frenulum, and a palatal epulis is presented. Thirty-nine papers met the eligibility criteria and 45 cases were included in the systematic review. CULS shows typical clinical and pathologic characteristics. It tends to occur at the midline region horizontally (n=35; 78%) and the upper part of the white lip (n=23; 51%) vertically. No ethnic predilection is found, but it tends to show a female predilection (n=28; 62%). Twenty-six cases (58%) are symptomatic. Thirteen cases (29%) are accompanied by other maxillofacial defects. In all cases, the sinus was lined with stratified squamous epithelium. The etiology remains unknown but 3 theories have been put forward: the fusion theory, the merging theory, and the invagination theory. The authors believe that CULS shows homogeneity with cleft lip to some extent and maybe a microform of it. Primary treatment is surgical excision and the prognosis is favorable, with no complications or recurrence.
Congenital midline sinus of the upper lip are rare congenital malformations. We recently identified a case featuring a congenital midline sinus of the upper lip. The punctate opening was positioned at the midline of the philtrum, immediately below the base of the columella. Surgical removal of the sinus tract was conducted through an intraoral approach. Up to now, fewer than 70 cases have been reported. Several postulates, including the fusion theory, merging theory, and invagination theory, have been proposed to explain the formation of the congenital midline sinus of the upper lip. Nevertheless, the etiology of this uncommon abnormality remains unclear. This report details a case of a congenital upper lip sinus presenting as a congenital midline sinus of the upper lip and reviews the current literature on this condition.
Congenital lip sinus is a rare entity with upper lip sinus being rarer than the lower lip sinus. It can be an isolated entity or associated with cleft lip, palate or Van der Woude syndrome. Syndromic association requires proper evaluation and aggressive surgical treatment. Preoperative delineation of the sinus tract with ultrasound sonography or MRI is mandatory. Simple excision is sufficient in cases of isolated sinuses. In this article, we report an infant with upper lip sinus managed successfully with simple excision and reviewed the literature.
Among the rare congenital malformations, congenital nasal sinuses with blind end are extremely unusual. To the best of our knowledge, a sinus located in the midcolumellar region has not been reported yet. Since there is no consensus about the treatment of midcolumellar sinus, to manage the case as individually as possible was our priority. Considering the patient’s age, aesthetic concerns, and requirement of septorhinoplasty in the future, the known inverted V incision was modified to provide surgical excision without any extra scar in the midcolumellar line. This report emphasizes a patient-specific treatment of a 15-year-old female patient presented for congenital sinus in the midcolumellar area.
Congenital midline upper lip fistula is a very rare congenital anomaly that can be accompanied by other congenital abnormalities such as cleft lip and palate, and may appear as a symptom of a syndrome such as Pirre-Robin’s syndrome. It has been reported that this disease can be transmitted and presents signs of infection such as swelling of the upper lip, abscess formation, and pus discharge from the fistula. However, a case of infection in infancy has never been reported before.
Here, we report a case of a six-month-old baby with an infected congenital midline upper lip fistula. The patient visited our hospital with swelling of the upper lip and suckling disorder. With the midline upper lip fistula infected, signs of infection such as swelling of the upper lip, pus discharge from the fistula, and dome-shaped swelling of the oral vestibule of the maxillary anterior tooth were observed. Due to these acute symptoms, the patient had a suckling disorder. After anti-inflammatory treatment, we resected the lip fistula under general anesthesia.
Congenital midline upper lip fistula is likely to cause infection in infancy, leading to a suckling disorder. Early examination and treatment for a congenital midline upper lip fistula is suggested.
Objective
The study aimed to present the comparative analysis of midline congenital upper lip sinuses (MCULS) and nasal dermoids (NDs). The clinical similarity of congenital midline pathologies of the midface was interesting subject for further studies. Therefore, histopathological, and embryological background were also analyzed to verify a hypothesis that NDs and MCULSs are the different variants of the same entity.
Material and methods
The study group included 27 surgically treated pediatric cases with the congenital midline sinus of the nose (n = 25) or upper lip (n = 2). Seven children presented intraoperatively confirmed intracranial extension of the abnormality, 6 in NDs group and 1 in MCULS group. Apart from clinical characteristics also histopathological results were compared in both groups. An analysis of the literature concerning the proposed theories of origin of NDs as well as the current classification systems of MCULSs and NDs were conducted.
Results
The analysis revealed that MCULSs present the same clinical characteristics as NDs. No differences were noticed in the histopathological results. The embryological theories presented so far are insufficient to convincingly explain the precise process of origin of abnormalities such as ND and MCULS. Nevertheless, the developmental embryological processes of the midface shed a new light on the common origin of NDs and MCULSs. The proposal of an update of the existing classification of midline congenital midface sinuses was presented.
Conclusions
The comparative analysis of clinical, histopathological, and embryological characteristics confirms that NDs and MCULSs are different forms of the same entity. Embryological implications result in the possibility of intracranial extension in each case of MCULS. Therefore, CT and MR imaging which provide irreplaceable information are recommended for all patients with MCULS. The updated classification of midline congenital midface sinuses should be taken into consideration.
