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   Case Report
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CASE REPORT
Year : 1993  |  Volume : 59  |  Issue : 3  |  Page : 151-153

Bart syndrome




Correspondence Address:
Reshakiran Shende


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  Abstract 

An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.


Keywords: Bart syndrome


How to cite this article:
Shende R, Khedker M Y. Bart syndrome. Indian J Dermatol Venereol Leprol 1993;59:151-3

How to cite this URL:
Shende R, Khedker M Y. Bart syndrome. Indian J Dermatol Venereol Leprol [serial online] 1993 [cited 2020 Jun 1];59:151-3. Available from: http://www.ijdvl.com/text.asp?1993/59/3/151/3917



  Introduction Top


Bart et al [1] in 1966 described a kinship of 104 members over 5 generations, in whom 26 were affected with any one or a combination of the following traits : 1.congenital localised absence of skin, affecting the lower extremities, 2. blistering of skin or mucous membranes or both with no residual scarring, and 3. congenital absence or deformity of nails or both. It was also concluded that this represents a new syndrome which is different from other congenital localised aplasia of skin and from the various forms of epidermolysis bullosa. [1] Cases of aplasia cutis with blistering of skin are occasionally reported in Indian literature. [2],[3] We encountered an infant having all the features of Bart syndrome.


  Case Report Top


A 2-week-old-male child was brought for extensive ulcerative lesions on the lower extremities. The child was fourth issue born with full term normal delivery. Absence of skin on lower extremities was noticed by mother at birth of the child.

Local practitioner advised systemic ampicillin and framycetin for topical use. There was no response to the treatment and on seventh day the child started developing blisters on sacral and scapular region and on both lips for which the child was brought to this hospital. Examination of the child revealed otherwise healthy child having normal neonatal reflexes. The skull was normal and all the nails were dystrophic. There was syndactyly of first 2 toes on left side. Local examination revealed symmetrically distributed aplasia cutis on the lower extremities. The surface of the ulcerative area was covered with inflammatory exudate and crusts [Figure - 1]. There was clear demarcation between the normal and diseased skin. Blisters were present on the sacral area [Figure - 2], scapular region and on both lips. Examination of oral cavity revealed superficial ulcerative lesions on buccal mucosa on both sides. There was no congenital anomaly and systemic examination was normal. Patient was the fourth issue of consanguineous parents. The first 2 female children were normal and alive. The third child was also born with similar skin lesions on lower extremities, the parents were not sure about the blisters on skin, the child died at the age of 6 weeks. Father and mother of the patient had normal nails and there was no history of blisters on skin. Haemogram, urinalysis, kidney function tests, liver function tests, X-ray chest and lower extremities were normal. Staph.aureus was grown from the ulcerative lesions on legs. Histopathological examination of skin from the centre of the lesion revealed absence of epidermis. There were tufts of sweat glands and hair follicles were absent. The patient was given inj. gentamicin, oral vitamin E and topical sisomicin. Ten days later the vesicles regressed and the infection was controlled, however there was no tendency for healing of the ulcerative lesions. Fresh blisters appeared on the sacral, scapular and scalp area. On 15th hospital day the child became suddenly dyspnoeic, developed tachycardia, became unconscious and died. Autopsy was not permitted by the parents.


  Comments Top


The mode of inheritance of Bart syndrome is that of an autosomal dominant gene, showing full penetrance and variable expressivity. [1] Mild form of blisters without residual scarring following blistering, frequently seen nail abnormalities, blistering .of mucous membranes, localised aplasia cutis and autosomal dominant inheritance separates this new syndrome from other types of epidermolysis bullosa. [1] In the second group of aplasia cutis the defect is common on extremities and blisters develop subsequently, the aplasia cutis in this group is indicative of post developmental defect, caused by some trauma in uterus. [2] In a patient with extensive aplasia cutis it may be a feature of Bart syndrome [1],[3],[4] It seems that Bart syndrome is not a rarity but in the initial stages it may be confused with aplasia cutis congenita, subsequent development of blisters unfolds the diagnosis. There was no response to the drug therapy in our patient. Keeping the wound clean and immobilisation of the parts to avoid trauma was partially effective: Cause of death in the patient could not be ascertained, however mild type of blisters in the present case rules out the possibility of epidermolysis bullosa letalis.

 
  References Top

1.Bart BJ, Gorlin RJ, Anderson VE, et al. Congenital localised absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966; 93 : 296-304.  Back to cited text no. 1  [PUBMED]  
2.Viziam CB, Mathai R, Mammen A. Epidermolysis bullosa simplex simulating aplasia cutis. Ind J Dermatol Venereol Leprol 1969; 35 :192-4.  Back to cited text no. 2    
3.Gharpuray MB, Tolat SN. Bart's syndrome (Letter to the Editor). Ind J Dermatol Venereol Leprol 1992; 58 : 135-6.  Back to cited text no. 3    
4.Bart BJ. Epidermolysis bullosa and congenital localised absence of skin. Arch Dermatol 1970; 101 : 78-81.  Back to cited text no. 4    


    Figures

[Figure - 1], [Figure - 2]

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