scholarly journals A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome

2009 ◽  
Vol 29 (8) ◽  
pp. 582-584 ◽  
Author(s):  
A Burkhead ◽  
G Poindexter ◽  
D S Morrell
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Skull Defect ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Large Skin ◽  
Aplasia Cutis ◽  
Central Nervous System Malformation

Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head

2020 ◽  
Vol 37 (3) ◽  
pp. 455-460
Author(s):  
Travis J. Kuemmet ◽  
James J. Miller ◽  
Daniel Michalik ◽  
Sean M. Lew ◽  
Mohit Maheshwari ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cohort Study ◽  
Low Risk ◽  
Aplasia Cutis Congenita ◽  
Aplasia Cutis

scholarly journals Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
V. Thadchanamoorthy ◽  
Kavinda Dayasiri ◽  
M. Thirukumar ◽  
N. Thamilvannan ◽  
S. H. Chandraratne
Keyword(s):  
Rare Condition ◽  
The Body ◽  
Sri Lankan ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Underlying Causes ◽  
Cutis Aplasia ◽  
Contracture Formation ◽  
Type V ◽  
Aplasia Cutis

Abstract Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Malformation of the Brain, Skull, and Spine

2021 ◽  
pp. 1057-1070
Author(s):  
Lily C. Wong-Kisiel
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Developmental Delay ◽  
Abnormal Development ◽  
Gene Expressions ◽  
Common Cause ◽  
Genetic Causes ◽  
The Central Nervous System ◽  
The Brain ◽  
Central Nervous System Malformation

Abnormal development of the central nervous system is a common cause of developmental delay and epilepsy. An understanding of central nervous system malformation begins with an overview of normal embryology. Genetic advances in embryogenesis have unfolded a complex orchestration of gene expressions in place of the traditional developmental epochs (induction, neurulation, proliferation, migration, organization, synaptogenesis, and myelination). Causes of malformation of the central nervous system are multifactorial. Genetic causes, vitamin excess or deficiency, infections, or teratogens any time during pregnancy may disturb the preprogrammed mechanisms.

scholarly journals A rare case report of aplasia cutis congenita of the scalp with triplet skin defects in non-syndromic newborn

2021 ◽  
Vol 8 (3) ◽  
pp. 997
Author(s):  
Naim Sulaiman Abuzarifa ◽  
Wan Azman Wan Sulaiman
Keyword(s):  
Case Report ◽  
Gestational Age ◽  
Rare Case ◽  
Surgical Intervention ◽  
Skin Condition ◽  
Skin Defect ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Rare Case Report ◽  
Aplasia Cutis

Aplasia cutis congenita is an uncommon localized or widespread congenital skin condition characterized by the absence of the skin, and occasionally underlying tissues occurs in about one every 10.000 birth mostly in the scalp as single or more than one lesion and sometimes occurs in extremities and trunk with an uncertain cause and can be associated with numerous syndromes or can be sporadic which is diagnosed clinically and usually conservatively managed but sometimes surgical intervention needed. In this literature, we present nonsyndromic newborn Malay girl normally delivered with 35 weeks gestational age with triplet skin raw areas at the vertex of the scalp with well-demarcated defect round in shape measured about 0.5 in radius covered with a noninflammatory, necrotic patch. To our knowledge, many works of literatures presented Aplasia cutis congenita at the scalp with solitary single or occasionally more than one skin defect. In contrast, in our case, we present an infrequent rare case of triplet skin defect of aplasia cutis congenita for nonsyndromic newborns. 

scholarly journals Prediction and Value of Ultrasound Image in Diagnosis of Fetal Central Nervous System Malformation under Deep Learning Algorithm

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yuehong Zhou
Keyword(s):  
Neural Network ◽  
Central Nervous System ◽  
Nervous System ◽  
Deep Learning ◽  
Ultrasound Examination ◽  
Ultrasound Image ◽  
Control Group ◽  
Test Results ◽  
Experimental Group ◽  
Central Nervous System Malformation

This study was to explore the application of deep learning neural network (DLNN) algorithms to identify and optimize the ultrasound image so as to analyze the effect and value in diagnosis of fetal central nervous system malformation (CNSM). 63 pregnant women who were gated in the hospital were suspected of being fetal CNSM and were selected as the research objects. The ultrasound images were reserved in duplicate, and one group was defined as the control group without any processing, and images in the experimental group were processed with the convolutional neural network (CNN) algorithm to identify and optimize. The ultrasound examination results and the pathological test results before, during, and after the pregnancy were observed and compared. The results showed that the test results in the experimental group were closer to the postpartum ultrasound and the results of the pathological result, but the results in both groups showed no statistical difference in contrast to the postpartum results in terms of similarity ( P > 0.05 ). In the same pregnancy stage, the ultrasound examination results of the experimental group were higher than those in the control group, and the contrast was statistically significant ( P < 0.05 ); in the different pregnancy stages, the ultrasound examination results in the second trimester were more close to the postpartum examination results, showing statistically obvious difference ( P < 0.05 ). In conclusion, ultrasonic image based on deep learning was higher in CNSM inspection; and ultrasonic technology had to be improved for the examination in different pregnancy stages, and the accuracy of the examination results is improved. However, the amount of data in this study was too small, so the representative was not high enough, which would be improved.

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