A Rare Case of Chromosomal Abnormality: 19q13.11 Deletion in a Patient With Aplasia Cutis Congenita and Ambiguous Genitalia
Year: 2025
Type: article
Study design: Case Report
Abstract: Aplasia cutis congenita (ACC) is described as the local or generalized absence of the skin, the most common site being the scalp. Approximately one-third to one-sixth of the cases are associated with underlying bone and scalp dura mater defects. ACC may have other congenital defects, some of which are known as cleft deformities, abdominal wall defects, limb anomalies, and fetus papyraceus. Some of the ACC cases involve lesser-known defects. Different treatment options are available without clear, definitive guidelines. This case involves a patient who was born without an antenatal diagnosis of ACC and was found to have ambiguous genitalia and a chromosomal abnormality, a 19q13.11 deletion. Based on available treatment options in the literature, this patient was treated with a multidisciplinary specialty approach with conservative options and is waiting for future surgical repair. Limited cases of ACC are documented in the literature, which are considered great sources for obtaining knowledge about ACC. This case report aims to add to this great source with a discussion of the advantages and disadvantages of available treatment options and possible etiopathological factors. This case underscores the importance of a multidisciplinary approach to managing ACC, given its potential for diverse clinical presentations and the need for individualized treatment plans. ACC can be associated with various anomalies, including skeletal, neurological, and other congenital malformations.
Source: Cureus
DOI: 10.7759/cureus.82871
Authors: Anshuman Srivastava, Rishika Sharma, Sandhya Kadam, Archana Reddy Bongurala
Institution: Kaweah Delta Health Care District
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409748107