Introduction:
De Barsy syndrome is an uncommon genetic disorder that was initially described in 1968 and classified as a type of cutis laxa, a condition marked by skin that is loose, wrinkled, and lacking elasticity. The symptoms and severity of De Barsy syndrome can vary widely. It may involve eye abnormalities, growth abnormalities, and an appearance of premature aging. There may also be distinctive facial features, skeletal abnormalities, and neurological issues. In some cases, genetic mutations in either the PYCR1 or ALDH18A1 genes have been linked to the condition. De Barsy syndrome is inherited in an autosomal recessive pattern.
What Are the Causes of De Barsy Syndrome?
De Barsy syndrome can be caused by changes in two specific genes, PYCR1 or ALDH18A1. These genes give instructions to the body to make important proteins. When a gene changes, it can cause problems with the protein, which can affect different parts of the body. However, some people with De Barsy syndrome do not have changes in these two genes, so there may be other genes involved that researchers do not know about yet.
De Barsy syndrome is an inherited genetic disorder that is transmitted from parents to their offspring. Genes are like a set of instructions that determine how bodies grow and work. Genetic disorders that are inherited occur when a child inherits two abnormal genes for a specific trait, with one coming from each parent.
If a person only gets one abnormal gene and one normal gene, they are a "carrier" of the disease but usually will not have any symptoms. When two people who are carriers for the disease have a child, there is a 25 percent chance that the child will inherit both abnormal genes and have the disease. There is a 50 percent chance that the child will be a carrier like the parents, and a 25 percent chance that the child will inherit two normal genes and not have the disease. This chance is the same for boys and girls.
The PYCR1 and ALDH18A1 genes that are linked to De Barsy syndrome are located in specific places on the chromosomes that carry our genetic information. These chromosomes are found in the nucleus of our cells, and most human cells have 46 chromosomes. Chromosomes are numbered from 1 to 22, with the sex chromosomes being X and Y. Each chromosome has a short arm (called “p”) and a long arm (called “q”), which are further divided into numbered bands that specify the location of genes on the chromosome.
What Are the Symptoms of De Barsy Syndrome?
De Barsy syndrome is a rare genetic disorder that can cause various symptoms affecting different systems of the body. Some of the most common symptoms associated with the condition include:
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Skin Abnormalities: The hallmark feature of De Barsy syndrome is loose, sagging skin, particularly around the face, hands, and feet. The skin may also be wrinkled and lacking in elasticity, giving a prematurely aged appearance.
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Eye Abnormalities: Some individuals with De Barsy syndrome may have eye problems, including nearsightedness, clouding of the lens (cataracts), and abnormal eye movements (strabismus).
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Growth Abnormalities: Affected individuals may have delayed growth and development, including slow weight gain and short stature.
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Facial Features: De Barsy syndrome may lead to unique facial characteristics such as a reduced head size (microcephaly), an elevated forehead, and a small and underdeveloped jaw (micrognathia).
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Skeletal Abnormalities: Individuals with De Barsy syndrome may have abnormal bone growth and development, including a small or underdeveloped skull, abnormalities of the spine, and joint problems.
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Neurological problems: Some individuals with De Barsy syndrome may have developmental delays, intellectual disability, and problems with muscle control and coordination. Seizures and other neurological issues may also occur.
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Other symptoms: Other symptoms that may be seen in De Barsy syndrome include hearing loss, respiratory problems, and digestive issues.
How to Diagnose De Barsy Syndrome?
The diagnosis of De Barsy syndrome can be challenging, as the symptoms can vary widely and may overlap with those of other conditions. Diagnostic tests that may be used to confirm a diagnosis of De Barsy syndrome include the following:
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Genetic Testing: This involves analyzing a blood or saliva sample for mutations in the PYCR1 or ALDH18A1 genes. Genetic testing can confirm a diagnosis of De Barsy syndrome and can also help identify carriers of the condition.
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Imaging Studies: X-rays or other imaging tests may be used to look for skeletal abnormalities and to assess the severity of joint problems.
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Eye Exams: An ophthalmologist may perform a comprehensive eye exam to check for abnormalities such as cataracts, nearsightedness, and strabismus.
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Developmental and Cognitive Assessments: These tests can help evaluate the individual's intellectual abilities and identify any developmental delays or intellectual disabilities.
Is There Any Cure for De Barsy Syndrome?
The treatment of De Barsy syndrome is tailored to address the specific symptoms and needs of each individual and may require a team of healthcare professionals such as pediatricians, surgeons, dermatologists, orthopedists, neurologists, and ophthalmologists. Genetic counseling and psychosocial support are also important for affected individuals and their families.
As De Barsy syndrome is a rare disease, there are no standardized treatment guidelines or protocols. Treatment options reported in medical literature are often based on single case reports or small series of patients. Conducting treatment experiments would be beneficial in evaluating the safety and efficacy of particular medications and therapies for people with De Barsy syndrome over an extended period.
Surgery may be recommended to address skeletal problems, ocular abnormalities, or hernias, and some individuals may choose to undergo cosmetic surgery to improve skin symptoms. However, loose and lax skin often recurs.
For individuals with ALDH18A1-related De Barsy syndrome and hyperammonemia, drugs known as ammonia scavengers and supplementation with Citrulline or Arginine may be used.
Early developmental intervention, physiotherapy, and special education services may also be necessary to help affected children reach their full potential. It is important for affected individuals to prevent the deterioration of cutis laxa or related symptoms, by avoiding certain activities such as sunbathing.
Conclusion:
In conclusion, De Barsy syndrome is a rare genetic disorder that can cause various symptoms affecting different systems of the body, including skin abnormalities, eye abnormalities, growth abnormalities, distinctive facial features, skeletal abnormalities, neurological problems, and other symptoms. It is inherited in an autosomal recessive pattern and is caused by mutations in the PYCR1 or ALDH18A1 genes. While there is no cure for De Barsy syndrome, treatment options are available to manage specific symptoms and improve the quality of life of affected individuals.
