Do you know this syndrome?

Abstracts

A síndrome de Bart é caracterizada pela tríade de manifestações clínicas: epidermólise bolhosa, aplasia de cútis e anormalidades ungueais. Presume-se que a ausência congênita de pele segue as linhas de Blaschko. O tratamento visa a evitar infecções secundárias. O prognóstico é bom e depende da cicatrização das bolhas.

Anomalias congênitas; Epidermólise bolhosa; Genética

SYNDROME IN QUESTION

^IDermatologist Responsible for the Pediatric Dermatology Service of Hospital Infantil Pequeno Principe - Curitiba (PR), Brazil

^IIResident Physician in Dermatology at Hospital de Clinicas - Curitiba (PR), Brazil

^IIIStudent of Medicine at Pontificia Universidade Catolica do Parana, Curitiba (PR), Brazil

^IVStudent of Medicine at Pontificia Universidade Catolica do Parana, Curitiba (PR), Brazil

Mailing Address

ABSTRACT

Bart's syndrome is characterized by three clinical manifestations: epidermolysis bullosa, congenital absence of skin, and nail abnormalities. It is believed that congenital skin absence follows the patterns of Blaschko's lines. Treatment seeks to prevent secondary infection. Prognosis is favorable and depends upon the healing of lesions.

Keywords: Congenital abnormalities; Epidermolysis bullosa; Genetics

CASE REPORT

Patient A.B.A., female, white, native of Pirai do Sul, Parana, Brazil. Her primiparous mother, 18 years old, did not have clinical events during prenatal care. She was born through vaginal delivery, full term labor, Apgar score 9/10, weighing 2205 grams. Her parents are apparently healthy and first-degree cousins. She was referred to us for disseminated bullous lesions, including involvement of the oral mucosa (Figures 1 and 2), and large area with absence of skin in the left lower limb from the knee to the foot (Figure 2). She also presented anonychia on her right first finger and on her left first and second toes (Figure 3). The patient was submitted to skin biopsy, and histological results were compatible with epidermolysis bullosa. After admission to the hospital, she received red blood cell concentrate transfusion. She was given Oxacillin for 10 days and Amikacin for 5 days. Daily dressings were done with fusidic acid, adaptic®, oily lotion with essential fatty acids, and cerium nitrate cream at 12.4%, with silver sulphadiazine at 1%. When the patient was discharged, bullous lesions were healing (Figure 4).

WHAT SYNDROME IS THIS?

Currently considered a genetic disorder by Cristhiano et al., Bart's Syndrome is characterized by a triad of clinical manifestations: congenital localized absence of skin, blistering, pustules, mucocutaneous vesicles (epidermolysis bullosa), and nail abnormalities.

One explanation given by several authors for congenital absence of skin is a mechanical lesion caused by intra-uterine physical trauma. Other authors support the idea that this would be possible only in the case of unilateral lesions and not symmetrical and bilateral lesions in lower limbs, especially toes and the plantar region of the feet, because these are areas of difficult injury by friction. McKinster et al. support the idea that the affected area follows the pattern of Blaschko's lines, which are metameric segments such as dermatomes that direct the growth of cutaneous cell clones derived from a limited number of precursors. Denuded lesions that follow these lines are symmetrical, in an S-shaped broad band, and with sharply demarcated borders.

Nail abnormalities found in this syndrome include nail dystrophy, onychomadesis, and anonychia. Regarding mucocutaneous bullous lesions, Bart's syndrome is considered an intra-uterine variant of dystrophic epidermolysis bullosa. This is due to the discovery of an alteration in the short arm of chromosome 3 in the p21 region, close to type VII collagen gene (COL7A1) with substitution of glycine for arginine. This alteration is found both in Bart's syndrome and in other variants of dystrophic epidermolysis bullosa.² Another hypothesis is that the ultrastructure reveals vesicles in the sublamina densa area, basal keratinocytes, tonofilaments, normal hemidesmosomes, and malformed or reduced anchoring fibrils. The phenotypical differences between the two pathologies previously mentioned result from the substitution of glycine in a localized and specific region. Fine et al. consider, on the other hand, that Bart's syndrome simply describes the simultaneous occurrence of congenital localized skin absence and congenital epidermolysis bullosa, thus meaning that the former is not a manifestation of dystrophic epidermolysis bullosa.

In spite of the fact that its molecular base is unclear, Bart's syndrome is considered an autosomal dominant inheritance with complete penetration but variable expression.

Treatment is done with the use of topical antimicrobic drugs and sterile dressing pads for prophylaxis of secondary infections. Within a few weeks from the start of treatment, lesions are slightly healed. Other alternatives include the use of silver sulphadiazine cream in patients older than 2 months, and early debridement of lesions with closed dressings, which are essential for survival. Treatment of lesions is of uttermost importance because this is an extremely painful clinical condition that limits quality of life.

Complications arising from a conservative treatment may include sepsis, local infection, hemorrhage, excessive loss of fluids, hypothermia, electrolyte disorders, and later hypertrophic or atrophic scars. Decades ago, when sophisticated products were not readily available and proper techniques to treat wounds were still evolving, infection was the main cause of mortality in any one of the types of congenital epidermolysis bullosa.

Currently, with the availability of new products in the market, prognosis is relatively favorable and depends upon the improvement of lesions as patients get older.

REFERENCES

• 1. Duran-McKinster C, Rivera-Franco A, Tamayo L, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R. Bart syndrome: the congenital localized absence of skin may follow the lines of Blaschko. Report of six cases. Pediatr Dermatol. 2000;17:179-82.
• 2. Christiano AM, Bart BJ, Epstein EH, Uitto J. Genetic basis of Bart´s Syndrome: a glycine substitution mutation in the type VII collagen gene. The Society for Investigative Dermatology, Inc. 1996;106:1340-2.
• 3. Ahcan U, Janezic T. Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg. 2002;55:530-2.
• 4. Horn HM, Tidman MJ. The clinical spectrum of epidermolysis bullosa simplex. Br J Dermatol. 2000;142:468-72.
• 5. Fine JD, Johnson LB, Weiner M, Suchindran C. Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr. 2008;152:276-80.

Do you know this syndrome?

Nadia Aparecida Pereira de Almeida^I; Flavia Serafini^II; Janaine Marchiori^III; Julie Gomes Del Moro^IV

Publication Dates

• Publication in this collection
  06 May 2010
• Date of issue
  Feb 2010