Epidermolysis bullosa and congenital localized absence of skin

Bart, B. J.

doi:10.1001/archderm.101.1.78

Cited by 18 publications

(14 citation statements)

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“…1), of both upper limbs and from the ventral aspect of the distal third of thighs, knees and superior part of legs. There were no other obvious congenital defects of bones, nails, hair or skin, as reported by others [3,4,9], The placenta appeared normal. The infant died 3 h after delivery.…”

supporting

confidence: 74%

Extensive Congenital Absence of Epidermis

Fuchs¹,

Lichtig²,

Peretz³

1971

Dermatology

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supporting

confidence: 74%

Extensive Congenital Absence of Epidermis

Fuchs¹,

Lichtig²,

Peretz³

1971

Dermatology

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“…Since that report, there have been numerous publications of sporadic and familial instances of classic ACC of the scalp , ACC involving the body (4,20,25,27,37,39,(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53), in association with limb defects (12,15,17,27,29,39,(54)(55)(56)(57)(58)(59)(60)(61)(62)(63)(64)(65)(66), and with epidermolysis buUosa (67)(68)(69)(70)(71)(72)(73)(74)(75)(76)(77)(78)(79)(80)(81). The condition is also frequently found in trisomy 13 (82)…”

Section: "mentioning

confidence: 99%

Aplasia Cutis Congenita: A Report of 12 New Families and Review of the Literature

Sybert

1985

Pediatric Dermatology

114

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Aplasia cutis congenita (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the majority of instances this is limited to the scalp, although other areas of the body may also be involved. Other congenital malformations have been reported to occur with ACC; limb defects appear to be a specific association. Given our experience with ACC, we suggest a classification based on genetically distinct entities. Type I ACC is limited to the scalp. Type II involves body or scalp; IIA involves body or limb defects. Type III is limited to the scalp or limbs. Type IV is associated with epidermolysis bullosa; type IVA is Bart syndrome. Although most reported cases have been sporadic, there are many familial occurrences of all types of ACC. Most published pedigrees are consistent with autosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family members of affected individuals is warranted.

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“…3 Bart considered congenital absence of skin as an occasional manifestation of epidermolysis bullosa simplex and attributed it to in utero blistering. 4 However, he could not properly classify the disease as ultrastructural and immunochemical studies were not available at that time. Later Zelickson et al carried out these studies on the original kindred described by Bart and proved that these were cases of dominant dystrophic EB associated with congenital absence of skin.…”

Section: Discussionmentioning

confidence: 99%

Congenital Localised Absence of Skin (Bart ’ S Syndrome ) Rare Case Report

Sharma¹,

Gupta²

2014

jemds

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It is defined as congenital localised absence of skin associated with epidermolysis bullosa. It may be associated with any type of epidermolysis bullosa. Three cutaneous manifestation are characteristics of Bart syndrome: congenital localised absence of skin (CLAS), mucocutaneous blistering and nail abnormalities. It present as raw beefy areas of denuded skin on trauma prone site; extremity like hands and feet, also perioral area. Diagnosis is obvious clinically but requires ultrastructural microscopy. We describe here a case of newborn baby in our OPD who presented with raw beefy red areas of denuded skin on the hands, feet, neck area with few flaccid bulla near thigh. The patient was treated with antibiotic and steroid (fusidic acid + hydrocortisone) cream and emollients. Thus, Clinical appearance was sufficiently distinct to suggest the diagnosis of Bart's syndrome.

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Epidermolysis bullosa and congenital localized absence of skin

Cited by 18 publications

References 0 publications

Extensive Congenital Absence of Epidermis

Extensive Congenital Absence of Epidermis

Aplasia Cutis Congenita: A Report of 12 New Families and Review of the Literature

Congenital Localised Absence of Skin (Bart ’ S Syndrome ) Rare Case Report

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