|Year : 2020 | Volume
| Issue : 2 | Page : 89-91
A case of aplasia cutis type VI (Bart’s syndrome) at University of Abuja Teaching Hospital Gwagwalada, Abuja, Nigeria
Amaka Patricia Ehighibe, Amina Ibrahim Abubakar, Philip Mari Mshelbwala
Department of Surgery, University of Abuja Teaching Hospital, Gwagwalada, Abuja
|Date of Submission||04-Nov-2019|
|Date of Acceptance||28-Sep-2020|
|Date of Web Publication||18-Dec-2020|
Dr. Amaka Patricia Ehighibe
Department of Surgery, University of Abuja Teaching Hospital, P.M.B 228
Source of Support: None, Conflict of Interest: None
Aplasia cutis type VI, commonly referred to as Bart’s syndrome, is a rare genetic disorder characterized by congenital localized absence of skin commonly in the lower limbs, epidermolysis bullosa, and sometimes dystrophic nails. We present a 2-hour-old male infant who presented with congenital absence of skin over both lower limbs at birth. He developed blisters in keeping with epidermolysis bullosa 24 hours after birth. Examination and investigations revealed no systemic involvement. An assessment of aplasia cutis type VI (Bart’s syndrome) was made. He was managed conservatively and wounds showed progressive re-epithelialization.
Keywords: Aplasia cutis type VI, Bart’s syndrome, epidermolysis bullosa, Nigeria
|How to cite this article:|
Ehighibe AP, Abubakar AI, Mshelbwala PM. A case of aplasia cutis type VI (Bart’s syndrome) at University of Abuja Teaching Hospital Gwagwalada, Abuja, Nigeria. Nigerian J Plast Surg 2020;16:89-91
|How to cite this URL:|
Ehighibe AP, Abubakar AI, Mshelbwala PM. A case of aplasia cutis type VI (Bart’s syndrome) at University of Abuja Teaching Hospital Gwagwalada, Abuja, Nigeria. Nigerian J Plast Surg [serial online] 2020 [cited 2021 Sep 26];16:89-91. Available from: https://www.njps.org/text.asp?2020/16/2/89/303831
Key Messages This rare congenital anomaly can be very distressing to parents of the newborn. Surgical intervention is rarely required. Thus, proper counselling and conservative treatment following diagnosis are key to management of these patients.
| Introduction|| |
Bart’s syndrome is a rare disorder described by Bart et al. in 1966. He described a family in which some members had one or more of the following three findings: congenital absence of skin affecting the lower limbs, blistering of skin and/or mucous membranes, and absent or dystrophic nails.
This article reports a male neonate who presented with two of the three features listed by Bart.
| Case history|| |
Baby I.O, a 2 hour old male newborn to a 24-year-old para 3 mother who presented with absence of skin on both lower limbs noticed at birth.
The mother delivered the baby via spontaneous vaginal delivery (SVD) at term following a supervised gestation. She took only prescribed antenatal medication and had no history of any febrile ailments or exposure to radiation during the course of the pregnancy. She had no history of thyroid disease before or during the pregnancy. Mother had two prenatal ultrasonographic scans that revealed no abnormalities. No history of a fetus papyraceous at birth and no family history of similar lesions.
The baby was referred from the center of birth upon discovery of the abnormalities, and apart from the skin lesions, he seemed to be in good health weighing 3.1 kg. He had normal first and second heart sounds, and chest, abdominal, and genitourinary examinations revealed no abnormalities. The right lower limb had areas of skin absence extending from the distal thigh to the foot anteromedially [Figure 1]. The left lower limb had an almost circumferential absence of skin extending from mid leg to foot with an area of constriction just above the ankle [Figure 2]. His nails were normal. A full blood count done revealed hemoglobin of 6.9 and platelet of 47, both low values. We found no apparent cause for this and none of the literature reviewed suggested any association with Bart’s syndrome. Other parameters were essentially normal. Abdominopelvic ultrasound done revealed no abnormalities.
On the second day of life, he developed blisters over the left cheek and right arm in keeping with epidermolysis bullosa. These subsequently ruptured leaving raw surfaces.
Based on these findings of congenital absence of skin and blistering in keeping with epidermolysis bullosa, we made a diagnosis of aplasia cutis type VI (Bart’s syndrome).
He was placed on hematinics and fed on demand as supervised by the nurses at the special baby care unit where he was receiving care. He had two dressing changes while on admission on a weekly basis using medihoney tulle. He was finally discharged home 11 days after admission with facial and arm lesions fully re-epithelialized and lower limb ulcers showing signs of progressive re-epithelialization. His mother was counselled on need for nutritional rehabilitation, and he continued dressings on outpatient basis and was monitored in a virtual ward until 2 months post discharge when the residual ulcers were negligible. The patient subsequently was lost to follow up.
| Discussion|| |
Aplasia cutis congenita (ACC) is congenital absence of skin. This absence of skin may occur in any part of the body but is most common in the scalp., Frieden, classified aplasia cutis into nine types, each with its own characteristic area of skin absence, inheritance pattern, and associated disorders. Type VI aplasia cutis, also known as Bart’s syndrome, is a very rare disorder characterized by the absence of skin in the lower extremities, in association with any of the various forms of epidermolysis bullosa and nail dystrophy. The baby in this report presented with skin absence in both lower limbs and blistering on the face and upper limbs in keeping with ACC type VI.
Various authors have proposed different possible etiologies for ACC ranging from the amniogenous theory, which suggests that the lesions are caused by peeling off of amniotic membrane that may have been stuck to the fetal skin. Others have described teratogens such as methimazole, in utero trauma, genetics, and so on., ACC in the setting of epidermolysis bullosa, however, is thought to follow mechanical trauma in utero from kicking, leading to blistering and subsequent erosion. This may explain its distribution in the lower limbs. The mother of our patient had an uneventful antenatal and delivery history.
Clinically, a glistening transparent membrane may be found over the area of ulceration and this membrane is thought to help re-epithelialization. The baby in this report had a similar finding over both lower limb ulcers. Diagnosis of this condition is mainly clinical as the histological findings vary greatly and most cases have not been studied histologically. Diagnosis in our case was clinical as we did no histological examination.
Management of Bart’s syndrome is mainly nonoperative, with local wound care, and careful nursing to prevent mechanobullous eruptions. In a recent study, the authors managed their parient conservatively with topical fusidic acid cream twice daily and non adhesive dressing changed every 5 days. In this report, we managed our patient ab initio using medihoney tulle dressing as the contact layer and povidone iodine soaked gauze as secondary dressing. However, due to the high cost of medihoney tulle, at discharge, dressings were commenced with Vaseline gauze and povidone iodine soaked gauze. Areas of bullous eruptions were left intact and closed dressing was done leaving the intact skin to serve as a biological dressing. The blistered areas were fully re-epithelialized before discharge and the areas of skin absence showed signs of progressive re-epithelialization before patient was discharged on day 11. Prognosis in patients with Bart’s syndrome depends on the severity of epidermolysis bullosa and associated congenital anomalies. In the setting of a simple epidermolysis bullosa with no associated anomalies as in this case, prognosis is good.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Frieden JI. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.
Silberstein F, Pagkalos VA, Landau D, Berezovsky AB, Krieger Y, Shoham Y et al.
Aplasia cutis congenita: clinical management and a new classification system. Plast Reconstr Surg 2014;134:766e-73e.
Evers MEJ, Steijlen PM, Hamel BCJ. Aplasia cutis congenita and associated disorders: an update. Clin Genet 1995;47:295-301.
Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rufli T. Unilateral aplasia cutis congenital on the leg. Pediatr Dermatol 2004;21:454-7.
Alfayez Y, Alsharif S, Santli A. A case of aplasia cutis congenita type VI: Bart syndrome. Case Rep Dermatol 2017;9:112-8.
Demmel U. Clinical aspects of congenital skin defects. Eur J Pediatr 1975;121:21-50.
[Figure 1], [Figure 2]