Today we will talk about barts syndrome. But I want more attention of my readers so I will change my style today. We will have a case study on barts syndrome which will help to learn about it.
Introduction:
Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding.
Case study:
Overview: A case of 4-day-old baby who had absent skin over the legs along with blistering and nail dystrophy. The diagnosis of Bart's Syndrome was made based on history and clinical examination. However, detailed investigations and histopathological confirmation is needed for final diagnosis. The management is conservative and needs multidisciplinary support.
The baby was the third offspring born to a non-consanguineous couple. The parents were healthy and had no similar abnormalities of skin. Their first child had similar skin abnormality and died within two weeks after birth. However, the second child was normal. The second baby was normal in terms of weight, length, head circumference, and vital signs.
On examination,doctors found out, there was a well-defined area covered with a red translucent membrane over the anterior and medial aspect of the left leg extending onto the medial part of the sole and involving the great toe. The defect extended proximally up to the thigh and distally involved medial one-third of sole.
In addition, absence of skin was also noted over the distal half of fingers of the left hand.
A few discrete blisters were distributed over the extremities. Oral cavity of baby showed erosions over the hard palate. Nails of baby were dystrophic. Systemic examination appeared normal clinically but imaging studies were not done.
Skin biopsy and immunofluorescence studies could not be done as the patient was lost to follow-up. However, it was later learnt that the child succumbed to death within a few days. The cause of death was unknown.
So this was a case about Barts syndrome now we will discuss about the syndrome in detail and also what are the factors which were stopping the fetus from making the skin layer leading to formation of red translucent membrane.
Discussion:
Bart's syndrome was first observed in a family with congenital absence of skin on the lower leg and widespread blistering of skin, mucous membrane, and nail dystrophy. Bart et al. reported a kinship consisting of 103 direct descendants from one proband over four subsequent generations. The family had 26 affected members and penetrance was complete; father-son transmission was noted.
Clinical findings suggested that the Bart syndrome may be any of the three subtypes of EB: epidermal, junctional, or dermal. However, Bart was unable to classify the disease since advanced investigations were not available during his time.
Although a rare disease, Bart's syndrome has been reported from India. Even though Bart's syndrome has been classified as Type VI ACC by Frieden, it is a misnomer since ACC (aplasia cutis congenita) denotes failure of skin development, whereas in Bart's syndrome the skin is present initially and lost subsequently. The skin in ACC appears ulcerated, with superficial erosions, scarring, or bulla formation and heals with hypertrophic scarring.
Although several hypotheses have been proposed regarding its etiology and pathophysiology, they are still not understood we. The inheritance pattern is autosomal dominant; however, isolated cases have been reported. Abnormalities of anchoring fibrils (Type VII collagen) have been described at the dermo-epidermal junction. Duran-McKinster et al. suggested that congenital absence of skin in Bart's syndrome may follow the lines of Blaschko due to physical trauma in utero. Chiaverini et al. identified a mutation leading to a glycine-to-arginine substitution at Type VII collagen. The genetic abnormality has been associated with chromosome 3. Sporadic cases are associated with mutations of the triple helix domain of collagen VII gene. Differential diagnosis of Bart's syndrome includes ACC, EB, Adams-Oliver syndrome, and congenital bullous poikiloderma (Kindler syndrome).
Skin lesions in Bart's syndrome appear on extremities as sharply demarcated, glistening red ulceration that extend upward from the dorsal and the medial surface of the foot to the shin. They are usually unilateral. Skin around the oral cavity, nose, and ears can be affected owing to friction and trauma. Nail changes include nail dystrophy or progressive loss of nails. Other associated anomalies include pyloric atresia, rudimentary ear development, flattened nose, broad nasal root, and wide-set eyes. A case of Bart's syndrome associated with corpus callosum agenesis and choanal atresia has also been described. The above case had no associated anomalies clinically, but a detailed evaluation was not done.
The above case of Bart's syndrome was diagnosed clinically. Prenatal diagnosis can be done by fetoscopies, fetal skin biopsy specimens for ultrastructural analysis were obtained through transmission electron microscopy. Recently, DNA-based diagnostic screening using fetal DNA from amniotic fluid cells or chorionic villi samples is being done. Postnatal diagnosis depends on skin biopsy which should be examined for ultrastructural and antigenic features by transmission electron microscopy, immunofluorescence antigenic mapping, and EB-related monoclonal antibody investigations.
Management of Bart's syndrome is basically conservative. It is important to prevent infection of the denuded area and to allow the affected portion to heal adequately. The goal of treatment is to accelerate healing and reduce the risk of scarring. Furthermore, a close watch on complications such as hemorrhage, infection, hypothermia, and hypoglycemia is important. With good treatment the prognosis is good. In the above case, the cause of death may have been an undiagnosed anomaly associated with Bart's syndrome.
Lehninger Principles of Biochemistry
The inheritance pattern in this case looks to be autosomal dominant since another sibling was also affected. The presence of mucosal involvement, blistering, and nail dystrophy suggests that the above case could have been a dominant dystrophic EB. However, a definite conclusion would be possible only with skin biopsy, immunofluorescence, and electron microscopy.
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