Aplasia cutis congenita of the scalp- what are the steps to be followed?                Case report and review of the literature

Brzeziński, Piotr; Pinteala, Tudor; Chiriac, Anca; Foia, Liliana

doi:10.1590/abd1806-4841.20153078

Cited by 45 publications

(34 citation statements)

References 4 publications

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“…The classification of ACC into nine groups on the basis of location and pattern of the skin defect, presence of associated abnormalities, and mode of inheritance, has been recently updated by molecular-genetic diagnoses [2,3] (Table 1). Even the non-syndromic form of ACC1 (MIM #107600) has been found to be associated to a gene defect (BMS1 gene) [5], resembling a ribosomopathy slowing skin morphogenesis by p21-mediated cell cycle arrest.…”

Section: Introductionmentioning

confidence: 99%

Recognizable neonatal clinical features of aplasia cutis congenita

et al. 2020

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Background: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological cutaneous protection and to limit the risk of fluid leakage or rupture of the exposed organs. We aimed to review our institutional prevalence, comorbidities, treatment and outcome of newborns with ACC. Methods: We conducted a retrospective study including all newborns affected by ACC and admitted at the University Mother-Child Department from October 2010 to October 2019. Anthropometric and clinical characteristics of ACC1 versus a non-isolated ACC group were analyzed. Results: We encountered 37 newborns, 16 with ACC1 versus 21 with non-isolated ACC. The incidence rate of 0.1% in ACC1 was higher than expected, while 19% of cases showed intrafamilial autosomal dominant transmission. Higher birth weight centile, though lower than reference population, being adequate for gestational age, normal Apgar score and euglycemia characterizing ACC1 resulted associated to a rapid tissue regeneration. Non-isolated ACC, in relation to concomitant congenital anomalies and higher prematurity rate, showed more surgical and medical complications along with the risk of neonatal death. Specifically, newborns with ACC4 were characterized by the frequent necessity of abdominal wall defect repair, responsible for the occurrence of an abdominal compartment syndrome. Conclusion: Prompt carefully assessment of the newborn with ACC in order to exclude concomitant other congenital malformations, provides clues to the underlying pathophysiology, and to the short-term prognosis. Family should be oriented toward identification of other family members affected by similar pathology, while obstetric history should exclude initial multiple pregnancy with death of a co-twin, placental anomalies and drug assumption. Moleculargenetic diagnosis and genetic counseling are integrative in individualized disease approach.

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Section: Introductionmentioning

confidence: 99%

Recognizable neonatal clinical features of aplasia cutis congenita

et al. 2020

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“…It usually appears as well-demarcated, translucent or ulcerated membranes. It may be an isolated lesion or may accompany other congenital abnormalities [4,17]. TTA is rare congenital scalp disease.…”

Section: Discussionmentioning

confidence: 99%

A Very Rare Cause of Localized Nonscarring Alopecia: Nevus Psiloliparus- a case Review

2017

ARC Journal of Dermatology

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“…3 Most patients with ACC have no other abnormalities, although scalp ACC is possibly a hallmark of central nervous system anomalies. 1,4 In patients with large, deep, irregular or membranous lesions of the scalp, imaging studies are indicated to assess for underlying bone defects, vascular anomalies or brain malformations. 1 There is no consensus concerning the treatment of ACC.…”

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confidence: 99%

“…1,4 In patients with large, deep, irregular or membranous lesions of the scalp, imaging studies are indicated to assess for underlying bone defects, vascular anomalies or brain malformations. 1 There is no consensus concerning the treatment of ACC. 5 Management depends on the size of the defect and the physical condition of the child.…”

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confidence: 99%

“…5 A conservative approach often is adopted for small areas of ACC because of the self-limited course. 1,5 Multiple or large ulcers require excision and surgical closure because of the risk of hemorrhage and infection. 1 Aplasia cutis congenita is a rare disorder, and a precise clinical and radiographic evaluation at birth are essential to detect possible malformations and establish a suitable treatment.…”

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confidence: 99%

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