The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases

Mempel,; Abeck,; Lange,; Strom,; Caliebe,; Beham,; Kautza,; Worret,; Neubauer, Franz; Schröder, Christoph; Fölster-Holst,

doi:10.1046/j.1365-2133.1999.02881.x

Cited by 50 publications

(31 citation statements)

References 21 publications

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“…In two previously reported cases, the etiology was likely to be pulmonary vein stenosis in Toriello et al [1988] but is unclear for Swartz et al [1999] (Table I). Furthermore, two other possible cases with similar presentation have been reported [Mempel et al, 1999;Al Sanna'a et al, 2000].…”

Section: Discussionmentioning

confidence: 88%

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Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

Patel

Taylor

Bharya

et al. 2004

American J of Med Genetics Pt A

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Adams-Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. We report on two children with AOS plus additional features including intrauterine growth retardation (IUGR), cutis marmorata telangiectatica congenita (CMTC), pulmonary hypertension (PH), intracranial densities shown in one case to be sites of active bleeding and osteopenia. Autopsy in one case revealed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with two blood vessel abnormalities. Pericyte absence correlated with vessel dilatation while hyperproliferation of pericytes correlated with vessel stenosis. These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH.

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Section: Discussionmentioning

confidence: 88%

“…The inheritance in most cases is autosomal dominant, and the incidence is estimated as 0.44 per 100,000 live births [Martinez-Frias et al, 1996]. Many recent reports of AOS have highlighted the pleiotropism of this condition [Farrell et al, 1993;Mempel et al, 1999;Savarirayan et al, 1999;Pereira-Da-Silva et al, 2000;Gomes et al, 2001].…”

Section: Introductionmentioning

confidence: 98%

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

Patel

Taylor

Bharya

et al. 2004

American J of Med Genetics Pt A

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“…As there were no signs of syndactyly or transverse nail dystrophy and no defects in the central nervous system, Adams-Oliver syndrome, an ACC with transverse limb defects 11 , can be excluded. Bart syndrome which was first described by Bart in 1996, has to be considered; it represents the combination of congenital epidermolysis bullosa, congenital localized absence of skin affecting the extremities, and shedding or dystrophy of the nails 12 .…”

Section: Discussionmentioning

confidence: 99%

A Case of Aplasia Cutis Congenita, Type VII

et al. 2008

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Aplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of skin on the extensor surface of the right lower leg. There was no associated malformation or skin disease such as blistering or nail abnormailty. According to the classification outlined by Frieden, the condition was diagnosed as type VII aplasia cutis congenita. The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation.

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“…Many recent reports of AOS have highlighted the variable expression of this condition [Farrell et al, 1993;Mempel et al, 1999;Pereira-Da-Silva et al, 2000]. Since the original description, several sporadic, and familial cases of AOS have been reported with remarkable intrafamilial and interfamilial variability and autosomal dominant inheritance.…”

Section: Introductionmentioning

confidence: 97%

Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: A further support to the vascular hypothesis

et al. 2005

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Adams-Oliver syndrome (AOS) is a rare disease characterized by congenital scalp defects, terminal transverse limb defects and cutis marmorata telangiectatica. A significant incidence of cardiac and vascular malformations has been reported, leading to the hypothesis of a vascular defect early involved in the pathogenesis. We report two members of the same family with previously diagnosed AOS based on clinical phenotype and later recognized to have pulmonary arterio-venous malformation (PAVM). None of the subjects fulfilled current diagnostic criteria of hereditary hemorrhagic telangiectasia, which is the most common cause of PAVM. The occurrence of PAVM in AOS lends support to the hypothesis that endothelial specific abnormalities could be a patho-physiological mechanism in its development. Therefore, the role of screening for PAVM in clinical management of subjects with AOS should deserve further studies.

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The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases

Cited by 50 publications

References 21 publications

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

A Case of Aplasia Cutis Congenita, Type VII

Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: A further support to the vascular hypothesis

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