Severe congenital skin defects in a newborn

Leschot, N. J.; Treffers, P.E.; Becker-Bloemkolk, M. J.; Zanten, Sander van; Groot, W.P. de; Verjaal, M.

doi:10.1016/0028-2243(80)90023-4

Cited by 36 publications

(15 citation statements)

References 14 publications

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“…More recently, type VII collagen was shown to be absent in the skin of such patients (Bruckner-Tuderman et a [., 1989). Prior to the present report, elevated maternal serum or amniotic fluid AFP values in association with skin disorders had been described in only seven cases: epidermolysis bullosa simplex (Yacoub et al, 1979), aplasia cutis congenita (Leschot et al, 1980;Carmi etal., 1982;Bick et al, 1987;Farine et al, 1988), aplasia cutis congenita with fetus papyraceus (Cruikshank and Granados, 1988), and DEB (Bick et al, 1987). Bick et al (1987) were the first to note the presence of an AChE band in DEB and in a case of aplasia cutis congenita involving the abdomen, thorax, and upper arms.…”

Section: Discussionmentioning

confidence: 71%

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein

et al. 1993

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A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholinesterase, and normal ultrasound findings.

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Section: Discussionmentioning

confidence: 71%

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein

et al. 1993

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“…To add to the confusion, this condition also resembles the aplasia cutis congenita described by Leschot et al [1980], Carmi et a1 [1982], and Carey et a1 [1983]. Opitz [ 19861 has termed this type 1 late fetal epidermal dysplasia; it also is characterized by extensive skin erosion (Table I).…”

Section: Discussionmentioning

confidence: 89%

“…The skin in both type 1 LFED and EB/PA shows areas of separation, and gastrointestinal tract atresias are commonly found in affected infants. However, in type 1 LFED, skin separation occurs betwen the basement membrane and dermis [Leschot et al, 1980;Carey et al, 19831, whereas in EB/PA, the separation occurs betwen the epidermis and basement membrane, with the basement membrane remaining attached to the dermis. Blister formation is common in EB/PA, but rare in type 1 LFED.…”

Section: Discussionmentioning

confidence: 99%

Restrictive dermopathy and report of another case

1986

Am. J. Med. Genet.

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“…Although with an incorrect diagnosis of aplasia cutis congenita, RD was first described by Leschot et al [9], Carmi et al [4], and Toriello et al [21] in 1980, 1982, and entity in 1986 by Witt and co-workers [28]. Perhaps, the oldest clinical reports of RD are those of Antoine [1] in 1929 and Wepler [27] in 1938.…”

Section: Introductionmentioning

confidence: 95%

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

et al. 2008

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Restrictive dermopathy (RD) is a rare, fatal, and genetically heterogeneous laminopathy with a predominant autosomal recessive heredity pattern. The phenotype can be caused by mutations in either LMNA (primary laminopathy) or ZMPSTE24 (secondary laminopathy) genes but mostly by homozygous or compound heterozygous ZMPSTE24 mutations. Clinicopathologic findings are unique, allowing a specific diagnosis in most cases. We describe a premature newborn girl of non-consanguineous parents who presented a rigid, translucent and tightly adherent skin, dysmorphic facies, multiple joint contractures and radiological abnormalities. The overall clinical, radiological, histological, and ultrastructural features were typical of restrictive dermopathy. Molecular genetic analysis revealed a homozygous ZMPSTE24 mutation (c.1085_1086insT). Parents and sister were heterozygous asymptomatic carriers. We conclude that RD is a relatively easy and consistent clinical and pathological diagnosis. Despite recent advances in our understanding of RD, the pathogenetic mechanisms of the disease are not entirely clarified. Recognition of RD and molecular genetic diagnosis are important to define the prognosis of an affected child and for recommending genetic counseling to affected families. However, the outcome for a live born patient in the neonatal period is always fatal.

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Severe congenital skin defects in a newborn

Cited by 36 publications

References 14 publications

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein

Restrictive dermopathy and report of another case

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

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