Blepharocheilodontic Syndrome - An Overview

Introduction

BCD syndrome is a rare disorder for which the prevalence is unknown. Only a few patients are reported of this condition. It is a genetic condition that can be transmitted in families. The syndrome is also known as BCD, BCDS, or Elschnig syndrome. It is a syndrome that affects almost all body organs, hampering the patient's lifestyle. Comprehensive care must be given along with symptomatic treatment of the condition.

What Is Blepharocheilodontic Syndrome?

It is a disorder that is present at birth and mainly affects the upper lip and teeth. Craniofacial skeletal defects are one of the major occurrences of the syndrome. The syndrome occurs genetically and is inherited through parents. Not everyone with abnormal genes shows symptoms, but symptoms can occur even if one abnormal gene is present.

What Are the Causes of Blepharocheilodontic Syndrome?

Mutation in the genes named CDH1 or CTNND1 leads to this syndrome. Instructions for making certain proteins are provided by these genes. These proteins are present within the membrane surrounded by epithelial cells (cells lining the surfaces of the body along with the mouth and eyelids). It functions by helping in cell attachment or cell adhesion. It also helps in keeping the protein in the proper place. As protein interactions are necessary for the normal functioning of cell processes, shortage of this protein alters normal development, most particularly craniofacial development.

How Is Blepharocheilodontic Syndrome Inherited?

It is an autosomal dominant inheritance pattern in which a single copy of the altered gene in a cell can cause the syndrome in an individual. The abnormal gene copies are transmitted from parents to offspring.

What Are the Symptoms of Blepharocheilodontic Syndrome?

• Patients with this syndrome have lower eyelids that turn out so that the inner surface is exposed. The outside of the lower limit may sag away from the eye, and the eyelets may not be able to close completely. There can be extra eyelashes on the upper eyelets ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the island with the normal lashes but out of their inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye. Affected individuals may also have widely spaced eyes along with a flat face and a high forehead.

• Other symptoms of the syndrome include an opening in the roof of the mouth and on both sides of the upper lip.

• Affected individuals may present with few teeth or abnormal teeth, and their teeth are often smaller than usual and cone-shaped.

• Dental abnormalities affect both primary and secondary teeth.

• Ectodermal dysplasia, a condition in which there is abnormal development of skin, hair, nails, teeth, or sweat glands can also be present.

• Additional features occurring rarely can include the following:

  1. Obstruction of the anal opening.

  2. Malformation and absence of a butterfly-shaped gland in the lower neck called the thyroid, which results in a lack of thyroid gland function.

  3. Fused fingers and toes. Webbing or fusion of toes involving soft parts only or including Bony structure.

How Is Blepharocheilodontic Syndrome Evaluated?

• BCD syndrome is a rare condition characterized by certain clinical features. Despite specific Cephalometry radiographic analysis, clinical records, photographs, and dental radiographs are all assisted and evaluated to conclude the syndrome. Reduced anterior lower face measurement compared to normal people is seen.

• Cranial facial skeletal defects are more severe in BCD syndrome.

• Genetic tests can also be performed to determine these conditions.

Can Blepharocoliodontic Syndrome Cause Gastric Cancer?

In patients with familial blepharocheilodontic syndrome, we can find gastric cancer in individuals due to germline CD H1 pathology variant. It is a rare case; others in the family can not show any symptoms of gastric cancer, but counseling should be done regarding breast and gastric cancer surveillance and treatment.

What Is the Treatment for Blepharocheilodontic Syndrome?

The treatment for blepharocoliodontic syndrome can be based on symptomatic treatment. All the abnormal clinical features are corrected.

• Craniofacial Skeletal Deformities: Management of major deformities can be done surgically.

• Dental Abnormalities: A dental surgeon is needed to evaluate the condition of the patient and determine the proper treatment plan and carry out the treatment. Implants or dentures can replace all the missing teeth.

• Cleft lip and cleft palate are managed surgically with the help of oral and maxillofacial surgeons.

• Ophthalmological defects such as the morphology of eyelids and eyelashes can be addressed by a surgeon or by an ophthalmologist to carry out the treatment.

• An endocrinologist can help cope with endocrinological defects, including the absence of the thyroid gland.

• An orthopedician can correct spinal cord defects, defects formed in legs, fingers, or toes through surgeries.

How Can the Patient Survive the Condition?

The patient and the caregivers must be aware of the disease diagnosis. Navigating unexpected challenges, coordinating care, and handling financial concerns can be burdensome. Many challenges can be experienced by the parents as well as the caregivers when navigating everyday life. Providing proper care assisting during the disability, being there for the patient in mental health crisis, helping them in self-care, and providing proper care which helps improve the quality of life are not just the responsibilities of caregivers but the patient themselves.

Conclusion:

Blepharocoliodontic syndrome is a rare autosomal dominant disorder characterized by certain features like defects with the eyelashes, eyelids, cleft lip and palate, defects of the limbs, and endocrine disturbances. All the defects hamper the normal functioning of the particular organ and need necessary treatment. The syndrome is symptomatically treated. It involves a multi-disciplinary approach where almost all the experience surgeons of orthopedics, oral and maxillofacial surgeons, ophthalmologists, endocrinologists, general surgeons, and physicians are required to diagnose and treat the condition.