Introduction
Skin lesions can be due to infection, external trauma, or development defects. Such developmental defects occur due to abnormal genetic material. When this abnormal gene is transferred from the parents to the child, the children will likely show the disorder's symptoms. Most affected regions of the skin due to focal facial ectodermal dysplasia include facial skin, eyes, ears, nose, teeth, and lips. In certain cases, the shape of the skull appears to be an inverted triangle. The disease can be diagnosed with the help of clinical findings or carrying out laboratory tests. Treatment for the same is a symptomatic treatment involving supportive therapy.
What Is Focal Facial Ectodermal Dysplasia?
Focal facial ectodermal dysplasia is also called focal facial dermal dysplasia or facial ectodermal dysplasia. It is a rare group of developmental defects characterized by skin lesions predominantly seen on the facial regions. The skin around the eyes and ears shows abnormally thin, dry skin.
What Are the Causes of Focal Facial Ectodermal Dysplasia?
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It is a rare genetic disease caused due to mutations (abnormal changes) in the genes, occurring mostly in children.
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It can be autosomal dominant inheritance or autosomal recessive inheritance.
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Autosomal dominant inheritance transfers the genetic trait from a dominant single parent.
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Autosomal recessive inheritance requires genetic traits from both parents for the characteristic features of the gene to be visible in the children.
What Are the Types of Focal Facial Ectodermal Dysplasia?
They are divided into four subtypes -
Type 1 - It is called Brauer syndrome. It shows the presence of skin depressions called forceps marks, scanty eyebrows, and flat nasal tips.
Type 2 - It is called Brauer-Setleis syndrome. Skin lesions on both sides of temporal regions, thin skin around the orbits, and a flat nasal bridge are present.
Type 3 - It is called Setleis syndrome, which is autosomal recessive, presenting with the same features as type 2.
Type 4 - Type 4 can be autosomal dominant or recessive, showing the presence of lesions around the ears.
What Are the Clinical Features of Focal Facial Ectodermal Dysplasia?
Following are the clinical features of focal facial ectodermal dysplasia -
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The thin skin around the eye region.
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Absence of eyelashes.
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Wrinkles on facial skin.
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Flat nose bridge.
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Large lips.
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Rubbery nose and chin.
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Skin hypopigmentation or hyperpigmentation.
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Dental defects.
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Impaired function of the lacrimal gland.
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Psychological disturbances.
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The inverted triangle shape of the skull.
What Are the Diagnostic Methods for Focal Facial Ectodermal Dysplasia?
Diagnosis of the disease is usually made by identifying the clinical findings in the patient.
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Dermatoglyphic Analysis - The study of patterns of ridges on the skin. As there appears to be a presence of abnormally different ridges on the skin due to these conditions, variations from the normal skin can be studied.
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Taking a Proper Medical History - A medical history involves asking the patient about the time, site, and symptoms of a disease and about medications used, allergies, family medical history, and social history.
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Genetic Testing - Changes in the person's DNA (deoxyribose nucleic acid, a genetic material) that cause the disease. Blood, saliva, or other tissue samples can be examined. The results obtained in genetic tests are the presence of a pathogenic variant, benign variant, or significant uncertain variant. The results determine if the disease is caused due to genetic change or not.
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Clinical Procedures - The doctor can advise certain procedures to diagnose the disease. Examining the skin lesions forms a major part of it.
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Laboratory Tests - The patient's blood, urine, and immunoglobulin levels are determined.
Can Focal Facial Ectodermal Dysplasia Be Prevented?
As it is a genetically occurring disease from the parents, it cannot be prevented. However, genetic counseling of the parents can be helpful in family planning.
What Is the Treatment for Focal Facial Ectodermal Dysplasia?
Treatment mainly involves treating the symptoms by a general physician. As it mostly occurs in children, a pediatrician, and a geneticist are involved. It is a multidisciplinary approach of a pediatrician, a geneticist, a dentist, a psychologist, an ENT (ear, nose, throat) specialist, along with a speech therapist.
Symptom-specific treatment is given.
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Treatment of Psychological Disturbances -
Early treatment is needed as the patient is psychologically affected due to poor facial features. Genetic counseling is given along with supportive therapy for couples expecting children.
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Treatment of Dental Defects -
Supportive therapy for dental defects includes the fabrication of dentures and changing the same as age progresses. After the eruption of permanent dentition, the removable dentures can be changed into fixed dentures.
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Treatment of Defects in the Eye -
Defects of the eye, including dryness or inflammation in the eyes, can be treated by administering artificial tears.
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Surgical Correction of the Facial Defects -
As the child grows, facial defects can be corrected without surgery, but in some cases, corrective surgery is performed.
What Are the Advancements in Treatment for Focal Facial Ectodermal Dysplasia?
Gene therapy is the future treatment option for major genetic disorders. Modifying the genes to produce a therapeutic effect by reconstructing or repairing a defective gene is called gene therapy. Different types of gene therapy exist in which a new gene can be added, or the existing abnormal gene can be modified.
How Is It Living With Focal Facial Ectodermal Dysplasia?
Many patients and their family members experience anxiety and other challenges which change over time.
Challenges include -
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Lack of financial and economic support.
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Lack of caregivers.
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Disturbed social life.
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Decreased quality of life.
How to Improve the Quality of Life While Suffering From a Rare Disease?
Quality of life can be improved in the following ways -
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Discuss the issues the patients and family members face with the treating doctor.
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Trying to know about the disease and preventing its consequences.
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Getting in contact with organizations that provide financial support legally.
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Getting immediate assistance from crisis support helplines.
Conclusion
Focal facial ectodermal dysplasia is a genetically inherited skin disorder that affects mostly the skin of the face and organs present on the face. Symptomatic treatment is advised to the patients to improve the quality of their life. Patients need to be offered a multidisciplinary treatment approach by doctors from respective specialties of pediatrics, genetics, ENT, psychology, and general physician. Research is being carried out to determine the effective treatment for focal facial ectodermal dysplasia.
