Dataset Information

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

ABSTRACT:

Background

Aplasia cutis congenita is a congenital disorder with the absence of skin, muscle and(or) bone. It usually affects the scalp. The presence of a large scalp defect can be potentially serious when complicated with hemorrhage and infection. Early healing of this condition is beneficial to improve the prognosis of infants.

Study case

A full-term newborn male was born with a round-shaped defect at the vertex of the scalp and skull (dimensions, 8 cm × 9 cm). The infant had a large deletion encompassing the 15.1 region of chromosome 15, including the DLL4 gene. Genetic testing was positive for Adams-Oliver syndrome (AOS). After two months of recombinant human epidermal growth factor gel combined with kangfuxin solution therapy, the skin defects of the scalp healed remarkably. The infant had regular follow-up appointments. At the age of 5 months, the defect became smaller, hairless, and showed good granulation tissue. At 2 years of age, the child's Gesell Developmental Schedules was 70.

Conclusion

Recombinant human epidermal growth factor gel combined with kangfuxin solution was a successful conservative treatment for an infant with a large scalp defect accompanied by AOS.

SUBMITTER: Yang XF

PROVIDER: S-EPMC9874222 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

Yang Xiu-Fang XF Shi Shang-Wen SW Chen Kang K

Frontiers in surgery 20230111

<h4>Background</h4>Aplasia cutis congenita is a congenital disorder with the absence of skin, muscle and(or) bone. It usually affects the scalp. The presence of a large scalp defect can be potentially serious when complicated with hemorrhage and infection. Early healing of this condition is beneficial to improve the prognosis of infants.<h4>Study case</h4>A full-term newborn male was born with a round-shaped defect at the vertex of the scalp and skull (dimensions, 8 cm × 9 cm). The infant had a ...[more]

PMID: 36713669

Similar Datasets

Project description:BackgroundAplasia 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.MethodsWe 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.ResultsWe 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.ConclusionPrompt 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. Molecular-genetic diagnosis and genetic counseling are integrative in individualized disease approach.

Dataset Information

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

Background

Study case

Conclusion

Publications

Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets