Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan – a case report and short literature review

Ștefănescu, Bogdan Ioan; Munteanu, Iulian; Radaschin, Diana Sabina; Constantin, Bianca

doi:10.11152/mu-2531

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…With the recent improvements in US technology, 3D US has become an important tool in assessment of fetal anatomy [ 28 ]. Many reports from the literature have already demonstrated the usefulness of 3D US in early diagnosis of different central nervous system malformations, such as spina bifida or holoprosencephaly [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Fetal acrania diagnosed at 17 weeks of gestation by 2D/3D ultrasound: a case report and literature review

Ştefănescu,

Mihalache,

Constantin

et al. 2024

Rom J Morphol Embryol

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Acrania is a fetal malformation characterized by complete or partial absence of the calvaria above the orbits and supraciliary ridge. No exact mechanism is demonstrated for this anomaly but disturbances in mesenchymal migration during the fourth week of development are the most documented. The key sonographic features of acrania are absent calvaria and dorsally bulging brain (Mickey Mouse head). Due to the normal process of ossification of cranial bones, the diagnosis can be established only after 11 weeks of gestation. Early detection is extremely important. The prognosis is extremely poor so elective termination of pregnancy is the treatment of choice. In this paper, we discuss the things we know about pathogeny and ultrasonographic features of fetal cranial malformations based on a case diagnosed late during gestation.

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Section: Discussionmentioning

confidence: 99%

Fetal acrania diagnosed at 17 weeks of gestation by 2D/3D ultrasound: a case report and literature review

Ştefănescu,

Mihalache,

Constantin

et al. 2024

Rom J Morphol Embryol

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“…Mucous membranes can be affected, leading to loss of teeth, ectropion, esophageal strictures or phimosis. Blistering occurs at multiple levels in the same individual, so the histopathological examination can reveal cleavage in the dermis or the junctional membrane [ 12 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Stefanescu,

Radaschin,

Mitrea

et al. 2023

Clinics and Practice

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Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. Case report: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. Conclusions: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.

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Fetal Cystic Lymphatic Malformations

Nzelu,

Panayotidis,

Smith

et al. 2024

J of Ultrasound Medicine

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ObjectiveEvaluate pregnancy and neonatal outcomes with fetal cystic lymphatic malformations (LMs), excluding those arising from the posterior neck, to facilitate patient counseling.MethodA systematic review was performed in accordance with PRISMA guidance. Case series and case reports published between 2000 and 2022 were included.ResultsSixty‐five studies (96 fetuses) met the inclusion criteria. The average gestational age at diagnosis was 25.5 weeks with the commonest location being the anterior neck (28%). All patients were diagnosed with LM using two‐dimensional (2D) ultrasound. Prenatal progression in LM size, presence of intralesional bleeding, or fetal hydrops occurred in 70% (41/59), 9% (5/59), and 3% (2/59), respectively. Chromosomal and structural abnormalities were reported in 4% (2/52) and 2% (2/96), respectively. Overall livebirth rate was 94% (79/84); 12/96 resulted in termination and 5/84 in in utero demise.The average gestational age of delivery was 37.7 weeks. Exactly 19% (15/79) had a vaginal birth, of which shoulder dystocia occurred in one infant. Ex utero intrapartum treatment (EXIT) procedure was performed in 13% (10/79). Postnatal treatment commonly involved surgical excision 38% (30/79), sclerotherapy in 21.5% (17/79), or combination of both in 11.4% (9/79). Of those with reported follow‐up, 4 died within 1 year, 1 developed heart failure at 2 years of life, and the remaining 44 had normal developmental outcomes.ConclusionFetal cystic LMs, excluding those in the posterior neck, are not commonly associated with chromosomal, or additional structural abnormalities. They usually increase in size before delivery with only a minority developing complications. The good developmental outcome was reported in all survivors.

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Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan – a case report and short literature review

Cited by 3 publications

References 16 publications

Fetal acrania diagnosed at 17 weeks of gestation by 2D/3D ultrasound: a case report and literature review

Fetal acrania diagnosed at 17 weeks of gestation by 2D/3D ultrasound: a case report and literature review

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Fetal Cystic Lymphatic Malformations

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