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An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye. Affected breeds include the American Cocker Spaniel, Bedlington Terrier, Golden Retriever, Poodle, and Samoyed. Imperforate lacrimal puncta can be corrected by surgical opening of the punctum.
A DCR is the treatment of choice for most patients with acquired NLD obstruction. Surgical indications include recurrent dacryocystitis, chronic mucoid reflux, painful distension of the lacrimal sac, and bothersome epiphora. For patients with dacryocystitis, active infection should be cleared, if possible, before DCR is performed.
Some clinicians believe that partial stenosis of the NLD with symptomatic epiphora sometimes responds to surgical intubation of the entire lacrimal drainage system. This procedure should be performed only if the tubes can be passed easily. In complete NLD obstruction, intubation alone is not effective, and a DCR should be considered.
If epiphora is caused by ectropion or entropion, lid repair is indicated. Punctal irrigation is also required. In infants with nasolacrimal defects, a nasolacrimal duct probe is used and a tube replacement, either temporary (Crawford) or permanent (Jones), is carried out. A surgical procedure called a dacryocystorhinostomy is done to join the lacrimal sac to the nasal mucosa in order to restore lacrimal drainage.
Before surgical intervention in adolescents, symptoms can be relieved by the combined oral contraceptive pill taken continuously to suppress the menstrual cycle or NSAIDs to relieve pain. Surgical treatment of the imperforate hymen by hymenotomy typically involves making cruciate incisions in the hymen, excising segments of hymen from their bases, and draining the vaginal canal and uterus. For affected girls who wish (or whose parents wish) to have their hymens preserved, surgical techniques to excise of a central flange of the hymen can be used. The timing of surgical hymen repair is controversial: some doctors believe it is best to intervene immediately after the neonatal period, while others believe that surgical repair should be delayed until puberty, when estrogenization is complete.
Epiphora is an overflow of tears onto the face. A clinical sign or condition that constitutes insufficient tear film drainage from the eyes in that tears will drain down the face rather than through the nasolacrimal system.
Tight hymenal ring is a disorder of the hymen, characterized by a rigid hymen and tight introitus, whether acquired or congenital. It excludes an imperforate hymen.
The condition can be relieved by outpatient surgery or manual dilation.
PELVIS syndrome is a congenital condition characterized by perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.
The most extensive epidemiological survey on this congenital malformation has been carried out by Dharmasena et al and using English National Hospital Episode Statistics, they calculated the annual incidence of anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus from 1999 to 2011. According to this study the annual incidence of congenital microphthalmia in the United Kingdom was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011.
With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.
For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.
In order to facilitate sexual intercourse, the main treatments are self-dilation methods (using intra-vaginal cylinders of increasing size) and surgical vaginoplasty to lengthen the vagina.
Self-dilation has a high success rate, estimated at 75%, and is usually the first-line treatment due to low surgical invasiveness. Overall, the complication rates are significantly lower with dilation than with vaginoplasty.
Surgery is indicated when there is inability or reluctance to perform self-dilation, or where it is performed but with failed result. One appropriate surgical variant is the "Vecchietti technique". In this procedure, an olive-shaped pressure device is pressed towards the potential vaginal space by a thread that goes through the skin, behind the urinary bladder and pubic bone and exits the skin in the hypogastrium, where it is attached to a plate that provides counter-traction. Vaginoplasty can also be performed using a skin graft or an intestinal graft. Traction vaginoplasty such as the "Vecchietti technique" seems to have the highest success rates both anatomically (99%) and functionally (96%), whereas skin graft procedures and intestinal procedures have the lowest successful outcomes (83–95%).
After vaginoplasty, available evidence suggests that continued self-dilation is needed to maintain patency in periods of coital inactivity.
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
Examples of atresia include:
- Biliary atresia, a condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.
- Choanal atresia, blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.
- Esophageal atresia, which affects the alimentary tract and causes the esophagus to end before connecting normally to the stomach.
- Imperforate anus, malformation of the opening between the rectum and anus.
- Intestinal atresia, malformation of the intestine, usually resulting from a vascular accident in utero.
- Microtia, absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia, a congenital deformity of the pinna, or outer ear).
- Ovarian follicle atresia, the degeneration and subsequent resorption of one or more immature ovarian follicles.
- Potter sequence, congenital decreased size of the kidney leading to absolutely no functionality of the kidney, usually related to a single kidney.
- Pulmonary atresia, malformation of the pulmonary valve in which the valve orifice fails to develop.
- Renal agenesis, only having one kidney.
- Tricuspid atresia, a form of congenital heart disease whereby there is a complete absence of the tricuspid valve, and consequently an absence of the right atrioventricular connection.
- Vaginal atresia, a congenital occlusion of the vagina or subsequent adhesion of the walls of the vagina, resulting in its occlusion.
Imperforate hymen is the most common vaginal obstruction of congenital origin. Estimates of the frequency of imperforate hymen vary from 1 in 1000 to 1 in 10,000 females.
Currently, there is not a treatment option for regaining vision by developing a new eye. There are, however, cosmetic options so the absence of the eye is not as noticeable. Typically, the child will need to go to a prosthetic specialist to have conformers fitted into the eye. Conformers are made of clear plastic and are fitted into the socket to promote socket growth and expansion. As the child's face grows and develops, the conformer will need to be changed. An expander may also be needed in anophthalmia to expand the socket that is present. The conformer is changed every few weeks the first two years of life. After that, a painted prosthetic eye can be fitted for the child's socket. The prosthetic eye can be cleaned with mild baby soap and water. Rubbing alcohol should be avoided because it may damage the prosthetic eye. Children need to be checked regularly to ensure the fit and size is appropriate.
The prognostic outcomes for this type of cloaca are good for bowel control and urinary function. The surgical repair for this type of cloaca can usually be done by performing posterior sagittal approach without opening of the abdomen. A common channel longer than 3 cm in length usually has poor sphincter muscles and a poor sacrum, suggesting a prognostic outcome for bowel control and urinary function to be less likely. Common channels longer than 3 cm are generally considered more complex and more technically challenging in surgical repair.
Imperforate anus usually requires immediate surgery to open a passage for feces unless a fistula can be relied on until corrective surgery takes place. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty or with a colostomy.
While many surgical techniques to definitively repair anorectal malformations have been described. The posterior sagittal approach (PSARP) has become the most popular. It involves dissection of the perineum without entry into the abdomen and 90% of defects in boys can be repaired this way.
About 60 percent of initial attacks of dacryocystitis will recur. Individuals with a poorly functioning immune system (immunocompromised) may develop orbital cellulitis, which may lead to optic neuritis, proptosis, motility abnormalities, or blindness.
There is no cure available for individuals with Bardet-Biedl Syndrome, however there are methods of treatment for some of the signs and symptoms within each individual. Corrective surgery of malformation related to the disorder may be an option for treatment. Genetic counseling is also something that could be beneficial to families with this disorder.
Salivary gland aplasia (also termed salivary gland agenesis) is the congenital absence of salivary glands. Usually the term relates to the absence of some or all of the major salivary glands.
It is a rare condition, and most known cases have been in association with syndromes of the ectodermal tissues, particularly the lacrimal apparatus. Example syndromes which have been reported with salivary gland aplasia include hereditary ectodermal dysplasia, mandibulofacial dysostosis and hemifacial microsomia.
The main significance of the condition is a lack of saliva, causing xerostomia (dry mouth), with accompanying susceptibility to dental caries (tooth decay), infections of the mouth, and upper respiratory tract infections (e.g., candidiasis, ascending sialadenitis, laryngitis and pharyngitis). Patients with salivary gland aplasia typically require regular application of topical fluoride to prevent tooth decay.
If the proper actions are not taken to expand the orbit, many physical deformities can appear. It is important that if these deformities do appear, that surgery is not done until at least the first two years of life. Many people get eye surgery, such as upper eyelid ptosis surgery and lower eyelid tightening. These surgeries can restore the function of the surrounding structures like the eyelid in order to create the best appearance possible. This is more common with people who have degenerative anophthalmia.
Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. The disorders that are usually coupled with a female who has vagina atresia are Rokitansky-Mayer- Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome.
Hydrocolpos is the distension of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. The obstruction is often caused by an imperforate hymen or less commonly a transverse vaginal septum. The fluid consists of cervical and endometrial mucus or in rare instances urine accumulated through a vesicovaginal fistula proximal to the obstruction. In some cases it is associated with Bardet-Biedl Syndrome. If it occurs in prepubertal girls, it may show up as abdominal swelling. It may be detected by using ultrasound. It may also present at birth as a distended lower abdomen and vagina. It also associated with vaginal atresia.
SCTs are very rare in adults, and as a rule these tumors are benign and have extremely low potential for malignancy. This estimation of potential is based on the idea that because the tumor existed for decades prior to diagnosis, without becoming malignant, it has little or no potential to ever become malignant. For this reason, and because coccygectomy in adults has greater risks than in babies, some surgeons prefer not to remove the coccyx of adult survivors of SCT. There are case reports of good outcomes.
A variety of causes may lead to dacrocystitis. Most notably, obstruction of the nasolacrimal duct leads to stasis of the nasolacrimal fluid, which predisposes to infection. Staphylococcus aureus is a common bacterial pathogen causing infectious dacrocystitis. Sometimes, especially in women, stones may develop in the lacrimal gland, causing recurrent bouts of dacrocystitis; this condition is called "acute dacryocystic retention syndrome."
Also due to pneumococcus, infection due to surrounding structure such as paranasal sinuses.
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.
- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.
- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.
- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.
- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.