El Síndrome de Van der Woude (SVW) es una anomalía infrecuente que afecta a estructuras orofaciales y ha sido insuficientemente reportada en América Latina, su identificación puede ser pasada por alto debido a que está íntimamente relacionada con labio y paladar fisurado. El objetivo del artículo es realizar según nuestro conocimiento, el primer reporte en Ecuador sobre este Síndrome que se caracteriza por la asociación congénita de senos en labios inferiores con labio leporino y paladar hendido. En la Clínica de Labio y Paladar Fisurado de la Universidad Católica de Cuenca se presentó en consulta una paciente de 6 años con las siguientes características: fístulas labiales simétricas en el labio inferior; asintomático y con secuelas de labio y paladar fisurado (LPF) con salivación extrema y goteo por la zona labial a la masticación. El SVW puede contar con otros hallazgos clínicos importantes como: pliegues cutáneos en los miembros, hipodoncia, úvula bífida, anquiloglosia y pérdida de la audición neurosensorial, de los cuales la paciente únicamente presentó úvula bífida y las fístulas labiales además de la secuela de LPF. El principal diagnóstico es meramente clínico, por lo tanto, no se necesitan diagnósticos complementarios, utilizándose los estudios de rutina como exámenes de laboratorio pre operatorios, más la valoración anestésica y cardiológica pediátrica. La paciente presentó secuelas de su primera cirugía de LPF por lo que se procedió a una nueva intervención y a la escisión de las fístulas labiales sin ningún tipo de secuela resultante. Conclusión: En un caso de Labio y Paladar Fisurado con fístulas labiales siempre se deberá realizar interconsulta con Pediatría para descartar síndromes asociados y proceder a su escisión quirúrgica, para evitar molestias durante la masticación del paciente y con fines posteriormente estéticos. La técnica quirúrgica realizada fue la Técnica en Huso (Fistulectomía), con la cual elimina de manera completa el trayecto ductal y se realiza un cierre por planos del labio, resultando sin secuelas.
Palabras clave: Labio leporino; fisura del paladar; anomalías congénitas; anomalías máxilofaciales; síndrome.
The Van der Woude Syndrome is a rare anomaly that affects orofacial structures and has been insufficiently reported in Latin America; its identification can be overlooked because it is closely related to cleft lip and palate. The objective of the article is to carry out, to our knowledge, the first report in Ecuador on this Syndrome characterized by the congenital association of sinuses in the lower lips with cleft lip and palate. In the Clinic of Lip and Cleft Palate of the Catholic University of Cuenca, a 6-year-old patient with the following characteristics presented in consultation: symmetrical lip fistulas on the lower lip; Asymptomatic and with sequelae of the lip and palate fissured with extreme salivation and dripping through the lip area upon chewing. The SVW may have other important clinical findings such as: skin folds in the limbs, hypodontia, bifid uvula, hookworm, and sensorineural hearing loss, of which the patient only presented bifid uvula and lip fistulas in addition to the sequela of LPF. The main diagnosis is purely clinical, therefore, complementary diagnoses are not needed, using routine studies such as preoperative laboratory exams, plus pediatric anesthesia and cardiology evaluation. The patient had sequelae from her first LPF surgery, so she underwent a new intervention and excision of the lip fistulas without any resulting sequela. Conclusion: In a case of cleft lip and palate with lip fistulas, an inter-consultation with pediatrics should always be carried out to rule out associated syndromes and proceed to their surgical excision, to avoid discomfort during the patient's chewing and for later cosmetic purposes. The surgical technique performed was the Spindle Technique (Fistulectomy), with which the ductal path is completely eliminated and a plane closure of the lip is performed, resulting in no sequelae.
Keywords: Cleft lip; cleft palate; congenital abnormalities; maxillofacial abnormalities; syndrome.
O Síndrome de Van der Woude (SVW) é uma anomalia pouco frequente que afeta estruturas orofaciais e tem sido pouco relatada na América Latina; sua identificação pode ser omitida por estar intimamente relacionada à fissura labial e palatina. O objetivo do artigo é realizar, a nosso conhecimento, o primeiro relato no Equador sobre essa síndrome, caracterizado pela associação congênita de seios do lábio inferior com fenda labial e fenda palatina. Na Clínica de lábio e fenda palatina da Universidade Católica de Cuenca, uma paciente de 6 anos com as seguintes características apresentou-se para consulta: fístulas labiais simétricas no lábio inferior; assintomática e com sequelas do lábio e paladar fissurados (LPF) com salivação extrema e gotejando pela área labial ao mastigar. A SVW pode contar com outros achados clínicos importantes, como: dobras cutâneas nos membros, hipodontia, úvula bífida, anciloglosse e perda auditiva sensorioneural, das quais o paciente apresentava apenas úvula bífida e fístulas labiais, além da sequela do LPF. O diagnóstico principal é puramente clínico, portanto, não foram necessários diagnósticos complementares, utilizando apenas estudos de rotina, como exames laboratoriais pré-operatórios, além de anestesia pediátrica e avaliação cardiológica. A paciente teve sequelas de sua primeira cirurgia de LPF, por isso foi submetida a uma nova intervenção e excisão das fístulas labiais sem nenhuma sequela resultante. Conclusão: No caso de fissura labiopalatina com fístulas labiais, sempre deve ser realizada uma interconsulta com a pediatria para descartar as síndromes associadas e proceder à excisão cirúrgica, para evitar desconforto durante a mastigação do paciente e para fins cosméticos posteriores. A técnica cirúrgica realizada foi a Técnica do Fuso (Fistulectomia), com a qual o conduto é completamente eliminado e realizado um fechamento do lábio, resultando em nenhuma sequela.
Palavras-chave: Fenda labial; fissura palatina; anomalias congênitas; anormalidades maxilofaciais; síndrome.
Van der Woude Syndrome is a rare abnormality, however, it’s the most common form of syndromic orofacial cleft, accounting for 2%. The main discovery is lip fistulas, although other discoveries such as hydrodontia, limb deformities, ankyloblepharon, genitourinary and cardiovascular abnormalities that rarely manifest may appear. This article reports a case of SVW of a 6-year-old female patient with two cleft lips and sequelae of cleft lip and palate surgery.
The prevalence of the syndrome is found in 1 of 35,000 to 100,000 in European and Asian populations, it is closely related in patients with cleft lip and palate in 2%, which is one of its major causes. Regarding its etiology, 70% of the population with the syndrome shows mutations in the IRF6 gene, located on chromosome 1q32-q41, which regulates the craniofacial process and stimulates epidermal development1.
According to Schinzel and Klausler (1986), lip fistulas are related in 2/3 of cases to cleft lip or cleft lip and palate, while 1/3 to cleft palate in isolation. Lip fistulas are the most common feature in SVW, they appear 80% symmetrically on both sides, they are categorized into 3 divisions according to their location: at the lip commissure, midline of the upper lip and midline of the lower lip. Phenotypically, it has been verified that 47% have bilateral cleft lip while 18 and 35% consist of mixed formations2.
Hypodontia occurs from 10 to 20% excluding the third molars, the lateral incisors and second molars are the most affected, whether temporary or permanent. Microalterations of the form include lumps in the lower lip, unilaterally or bilaterally, without discharge. Fissure of the submucosa on the palate and bifid uvula may also occur3.
Van der Woude Syndrome was originally described by Demarquay in 1845, later cited and improved by Anne Van der Woude in 1954, since she was the first author to relate lip fistulas with cleft lip and palate patients, in addition to finding their shape hereditary4.
The lip fistulas form channels in the mucosa, which extend inside the orbicularis lip muscle, with a length between 1 to 25mm. The fistula itself is long with forked areas, measuring between 5-6 cm ending on the skin. In special cases, the fistula can divide and merge again to form a sinus tract. The hole may show flushing on the lower lip, forming a depression surrounded by epithelium. The channels always end as sacs surrounded by the mucous gland. The opening of the fistula is so limited that its greatest extension reaches 6 mm4.
It differs mainly from two diseases: Pterigium Popliteal Syndrome and Orofaciodigital Type 1 Syndrome. These abnormalities can be confused during the diagnosis with that of SVW due to similar characteristics, for example the first case also presents facial clefts, abnormalities of genitalia, abnormalities of the nostrils, syndactyly of the toes, minor abnormalities in the extremities, and oral synechiae with one or two labial fistulas. On the other hand, Orofaciodigital Syndrome Type 1 rarely presents fistulas on the lower lip and clefts, with the presence of milia cysts and is lethal in men.5 That is why, a meticulous clinical examination should be carried out and for greater safety, carry out a histopathological examination to determine the final diagnosis.
Lip fistulas are asymptomatic; the most important sign is the continuous and intermittent drainage of salivary secretions that occurs spontaneously upon chewing. Mucous accumulation occurs during food and in relation to the crying of the infant. Gurney (1940) described that they can have fistula pain when having a cold5.
Histopathological examination shows extensive depressions in the center, surrounded by raised edges. The sides of the stratified epithelium and the central area appear thin, while most of the basal cells are “vacuolated” with displacement of the nucleus, similar to immature epithelial cells, in addition to the presence of acantholysis and hydropic degeneration in the epithelium of the fistulas or spongiosis can also unfold. The superficial dermis will present diffuse interstitial edema, slight dilation of the dermal and capillary papillae. Between the lateral wall and the depression of the fissure are cells such as parakeratocytes. On the other hand, neither the muscle nor the nerves show significant changes in terms of quality, quantity and disposition6.
Treatment for SVW includes all surgical procedures to correct facial abnormalities, including excision of the lip fistulas. The latter are performed for aesthetic purposes and to avoid extreme lip secretion, dismemberment of the sinus tract is performed, since, if any part of the mucous glands is attached to the fistula and there are remains, it could cause a mucous cyst and loss of lip muscles such as the orbicularis. When evaluating post operation, it has been shown that there are lip deformities, so two or three more operations are needed to eliminate residual anomalies7.
Make the report of the first case in Ecuador on SVW, which is presented at the Clinic of Cleft Lip and Palate of the Catholic University of Cuenca. Similarly, give guidelines for clinical diagnosis and treatment.
A 6-year-old female patient presented to the Clinic of the Cleft Lip of the Catholic University of Cuenca, she has a diagnosis of bilateral lip and cleft palate sequelae surgically treated for her primary pathology five years ago in another hospital and she comes for assessment of the lip fistulas present symmetrically on the lower lip. The patient´s mother reports that when eating, her daughter has an extreme salivation problem, there is an asymptomatic drip through the lip area, which causes discomfort in daily activities. Pediatric evaluation was performed to rule out other abnormalities, both cardiac and other organs and systems, ruling out all of which included Pterygium Popitleous Syndrome, so the definitive diagnosis is SVW. As it is a merely clinical diagnostic syndrome, no other complementary studies are required. A family history of related syndromes or LPF is ruled out. In the intraoral examination, no data on hypodontia or other abnormalities were observed.
SVW has a moderate prevalence analyzed in Europe (1 between 35,000 - 100,000) and there are no statistical analyzes in Latin America, making it an unreported or rare syndrome. Furthermore, it can overlook its diagnosis in a patient with LPF, as happened in this case where surgical treatment was required that was not previously performed, requiring a new surgery that could be performed during previous procedures. The patient was scheduled for excision of the secondary fistulas and lip plasties, and these fistulas resolved without any sequelae. The surgical technique performed was the Spindle Technique (Fistulectomy), with which the ductal path is completely eliminated and a plane closure of the lip is performed, resulting in no sequelae.
Early diagnosis, as well as its simultaneous resolution with both lip and palate surgeries, allows the patient to decrease morbidity due to the repeated surgeries that a patient with LPF require. The simple assessment that one of these children requires to evaluate the lower lip, which is often not analyzed, will allow avoiding additional surgery.
Fotografías del paciente preoperatorio:
Image 1. Extraoral examination where you can see the scar from cleft lip surgery. Image 2 and 3. Extraoral examination where the two lip fistulas are clearly seen next to the midline of the lower lip. Image 4. The presence of a bifid uvula can be observed on intraoral examination.
Fuente: Photographs Authority of Dr. Santiago Reinoso Quezada, authorized diffusion by informed consent of the patient's parents
Image 5. Post operation result of the excision of the lip fistulas, minimizing the depressions of the same due to normal recurrence that develops a controlled result two weeks after the surgical treatment.
Fuente: Photographs Authority of Dr. Santiago Reinoso Quezada, authorized diffusion by informed consent of the patient's parents.
The authors Lázaro and colls.9 tell that the SVW has a prevalence of 1 in every 100,000 to 200,000 people, only with a percentage of 1 to 2% in patients with cleft lip and palate. On the other hand, Gousy and colls.1 point out that this disease appears itself in 1 among 35,000 or 100,000 people, although they agree that it occurs in 2% of the cases of patients with LPF. Furthermore, it is important to note that Lázaro and colls.9, unlike all the other authors cited in this article, report that lip fistulas occur more frequently in the upper lip but not in the lower lip, due to the lack of fusion of the maxillary prominence with the medial nasal, creating these depressions. They also analyze that embryologically it is linked to sex since in women the palatal processes merge one week later than in men and this leads to a higher frequency of upper lip clefts linked to female sex, information not reported in other sources. Bibliographic9.
Lázaro and coll.9 propose a novel prenatal diagnostic tool to diagnose this syndrome, through early prenatal diagnosis by chorionic villus biopsy, however Klausler and coll.2 analyze 50% of the biopsy diagnostic methods, not an altered DNA, so this study is limited. Therefore, direct vision of the embryo through embryoscopy for an early diagnosis, would be the most reliable method since it could identify facial abnormalities from the ninth week of gestation9. On the other hand, the authors Anderson and Townsend8 state that Due to the variable expression that the syndrome has, it is difficult to predict fetal alteration, unless it is through ultrasound, with frontal cut, examination of the nasal limb plus the appearance of both lips.
The authors Puertas and Rangel10 emphasize that the detection of SVW can be diagnosed by carrying out a multidisciplinary and thorough clinical examination in patients with LPF, important for the specialist since its characteristics are more prominent and representative at the orofacial level, which could be underdiagnosed because of their clinical variability as in the present case. This multidisciplinary diagnostic method is the same one that was used, which is effective with an adequate knowledge and at low cost.
In a case of cleft lip and palate with lip fistulas, an inter-consultation with pediatrics should always be carried out to rule our associated syndromes and proceed to their surgical excision, to avoid discomfort during the patient’s chewing and for later cosmetic purposes. The surgical technique performed was the Spindle Technique (Fistulectomy), with which the ductal path is completely eliminated and a plane closure of the lip is performed, resulting in no sequalae. As it is a poorly known disease, some specialists could simply classify and recognize it beyond its clinical manifestation in patients with LPF, since there is little bibliography on it and few cases reported in Latin America, which does not allow us to state statistics on this anomaly in our continent. Therefore, your search, analysis and result should be published and investigated, in order to have a real statistic in each latitude.
|Santiago José Reinoso Quezada; https://orcid.org/0000-0002-8945-6391|
|Micaela Moscoso Mesías; https://orcid.org/0000-0002-9628-0611|
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