|Year : 2023 | Volume
| Issue : 2 | Page : 93-95
Bart Syndrome: A Deceptively Scary Presentation
Madhvi Trivedi, Rajesh Dutt Mehta, Bhikam Chand Ghiya, Prasoon Soni
Department of Dermatology, Venereology and Leprosy, Sardar Patel Medical College, Bikaner, Rajasthan, India
|Date of Submission||20-Jan-2023|
|Date of Decision||29-Mar-2023|
|Date of Acceptance||25-Apr-2023|
|Date of Web Publication||24-May-2023|
Dr. Madhvi Trivedi
549, Shiva Nagar, Udaipur - 313 001, Rajasthan
Source of Support: None, Conflict of Interest: None
Background: Bart syndrome is one of the rarest forms of aplasia cutis congenita (ACC). Clinical Description: We report a sporadic case of a neonate presenting with the absence of skin on the lower limb, tense blisters on fingers, and nail dystrophy. Management: Clinical features and skin biopsy confirmed the diagnosis of Bart syndrome. The baby was given symptomatic treatment with regular antimicrobial dressing. Within 2 weeks, the defect healed with the formation of hypopigmented scar and milia. The bullous lesions also disappeared completely. Conclusion: Bart syndrome, which is a type of ACC, is an extremely rare occurrence. Although it has an extensive involvement, the lesions if superficial, limited to the epidermis, have a good prognosis. Conservative management is sufficient to cause healing within a short span of time.
Keywords: Aplasia cutis congenita, Bart syndrome, epidermolysis bullosa, neonate
|How to cite this article:|
Trivedi M, Mehta RD, Ghiya BC, Soni P. Bart Syndrome: A Deceptively Scary Presentation. Indian Pediatr Case Rep 2023;3:93-5
Aplasia cutis congenita (ACC), or congenital absence of epidermis, may occur in isolation or may be associated with other syndromes. As per Frieden's classification, ACC with epidermolysis bullosa (EB) is classified as type VI ACC or Bart syndrome.
We report a rare case of Bart syndrome in a newborn presenting with the absence of skin on the lower limb, tense blisters on fingers, and nail dystrophy.
| Clinical Description|| |
A 15-day-old male newborn, who was referred to the dermatology department by pediatricians, presented with complaints of the absence of skin on his right leg since birth and multiple fluid-filled lesions in both hands, developing over last the 3 days. The baby was the firstborn child out of nonconsanguineous marriage, with apparently healthy parents through an uneventful pregnancy and vaginal delivery. There were no notable medical or surgical illnesses or similar features among any family members. There was no history of maternal drug intake or addiction during pregnancy. The baby had a weight of 2.7 kg, a length of 50 cm, and a head circumference of 35 cm, all within the normal range.
On examination, the baby was alert, active, and normothermic, with a normal pattern of respiration and good perfusion. There was a well-defined area of complete absence of skin over the anterior and medial aspects of his right leg, extending from the knee to the great toe. This segment was covered with a translucent membrane. Underlying vessels were visible [Figure 1]a. In addition, multiple tense bullous lesions measuring approximately 0.5 cm × 1 cm and erosions were present on both hands [Figure 1]c. There was dystrophy of the right middle finger nail [Figure 1]d. The skin over the scalp and hair were normal. The rest of the examination was also unremarkable, and the baby was feeding well. Based on the clinical findings, a provisional diagnosis of Bart syndrome, or ACC with EB, was made.
|Figure 1: (a) Congenital absence of skin over anterior and medial aspect of right leg extending from knee to great toe. Underlying vessels are visible beneath translucent membrane (b) healed lesion with hypopigmented scar and milia (c) tense blister and erosions on hand (d) dystrophy of fingernail|
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Skin biopsies were taken from a blister on the hand and from the lesion on the leg. Histopathological examination [Figure 2]a of the lesion on the leg showed breach in continuity of the epidermis, which was covered by crust containing plasma, pyknotic neutrophils, and degenerated collagen. Underlying dermis showed fibroplasia and loss of adnexal structures. The bullous lesion, on histopathology, revealed subepidermal blister with sparse inflammatory infiltrates [Figure 2]b. These histopathological findings were consistent with a clinical diagnosis of ACC on the leg and EB on the hands. Immunofluorescence studies could not be done due to lack of resources. The combination of ACC, EB, and nail dystrophy was consistent with a diagnosis of Bart syndrome.
|Figure 2: (a) Histopathology of lesion on leg showing breach in the continuity of epidermis that is covered by crust containing plasma, pyknotic neutrophils, and degenerated collagen. Underlying dermis showing fibroplasia and loss of adnexal structures. (b) Subepidermal blister with sparse inflammatory infiltrate in the histology of bullous lesion on hand (right) (Hematoxylin and eosin, ×40)|
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| Management and Outcome|| |
Dressing with chlorhexidine and fusidic acid-impregnated sterile gauze bandage was done for 4 weeks. Regular and meticulous dressing resulted in gradual epithelialization with hypopigmented scar and milia formation by 15 days [Figure 1]b. Bullous lesions disappeared within 10–12 days. The baby remained otherwise well and continued feeding optimally.
| Discussion|| |
The combination of features present in this newborn is typical of Bart syndrome, which is a genodermatosis, manifesting with a characteristic triad of features including (i) ACC over lower extremities, (ii) any type of EB, and (iii) nail abnormalities.
Bart syndrome was originally described in 1966 in a 26-member family. Since then, it has been reported in the literature, though the occurrence is extremely rare. Among the nine categories of ACC, described by Frieden [Figure 3], Bart syndrome belongs to category VI. It has an autosomal dominant inheritance pattern, though sporadic cases have been reported, as in our case.
In general, ACC is a relatively rare disorder, occurring in approximately 3 cases per 10,000 live births. In any newborn with ACC, a thorough evaluation is essential to rule out associated underlying abnormalities, which could be part of various syndromes such as Patau syndrome, Wolf–Hirschhorn syndrome, and Adams–Oliver syndrome. About 85% of lesions of ACC occur on the scalp, most of them being solitary. Other areas of affection include limbs, chest, and abdomen. Large lesions of the scalp may include defects in muscle, bone, and dura resulting in a higher risk of complications such as hemorrhage, thrombosis, and infection. Although the involvement of extremities results in larger defects compared to those on the scalp, however, they tend to show good healing and have a better prognosis.
The exact cause of ACC including Bart syndrome, is not known, though a number of factors have been implicated, such as genetic, environmental, vascular, defect in neural tube closure, and drugs (methimazole, benzodiazepines, and cocaine).
Bart syndrome is usually diagnosed clinically. Skin biopsy and genetic analysis may be considered for confirmation. Although the features were classical in our case, we confirmed the diagnosis by histopathological examination of the lesions. Some authors have described anomalies associated with Bart syndromes, such as pyloric atresia, ureteral stenosis, renal abnormalities, rudimentary ear development, flattened nose, broad nasal root, and wide-set eyes. No such findings were seen in our case.
Bart syndrome is generally managed conservatively, comprising wound care, control of infection, and prevention of complications. Hydrodebridement daily with 1/200 diluted povidone-iodine and fusidic acid cream and then closing the wound with dexpanthenol plus chlorhexidine-impregnated sterile gauze bandages leads to rapid epithelialization.
The prognosis of Bart syndrome is good generally and depends on the extent and severity of ACC, EB subtype, associated anomalies, and efficacy of treatment. Patients need to be closely followed up for serious complications such as hemorrhage, infection, and hypothermia. The children have normal life expectancy.
Bart syndrome is rarely encountered by pediatricians. The case is being reported to reiterate awareness of the fact that, despite a scary appearance, Bart syndrome if limited to epidermis, has a good prognosis requiring only conservative management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parent(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patient's parents understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Blunt K, Quan V, Carr D, et al
. Aplasia cutis congenita: A clinical review and associated defects. Neonatal Netw 1992;11:17-27.
Frieden IJ. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.
Duran-McKinster C, Rivera-Franco A, Tamayo L, et al
. Bart syndrome: The congenital localized absence of skin may follow the lines of Blaschko. Report of six cases. Pediatr Dermatol 2000;17:179-82.
Bart BJ, Gorlin RJ, Anderson VE, et al
. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966;93:296-304.
Kulalı F, Bas AY, Kale Y, et al
. Type VI aplasia cutis congenita: Bart's syndrome. Case Rep Dermatol Med 2015;2015:549825.
Rogvi RE, Sommerlund M, Vestergaard ET. Aplasia cutis congenita is a rare and possibly overlooked congenital anomaly. Ugeskr Laeger 2014;176:V05140276.
Verhelle NA, Heymans O, Deleuze JP, et al
. Abdominal aplasia cutis congenita: Case report and review of the literature. J Pediatr Surg 2004;39:237-9.
Kothari C, Doshi N, Avila A, et al
. Visual diagnosis: Newborn with absence of skin. Pediatr Rev 2014;35:e49-52.
Casanova JM, Martí RM, Baradad M, et al
. Bart syndrome associated to lethal junctional epidermolysis bullosa (Herlitz form). Actas Dermosifiliogr 2006;97:658-61.
Kuvat SV, Bozkurt M. Conservative treatment of a patient with epidermolysis bullosa presenting as Bart syndrome: A case report. Case Rep Med 2010;2010:302345.
[Figure 1], [Figure 2], [Figure 3]