Young adult with Cantu syndrome: dealing with a rare genetic skin disorder.

ABSTRACT: This case report of a young adult with Cantú syndrome (CS) illustrates a remarkable journey of learning how to cope with symptom management and emotional impact associated with a rare skin condition. We describe a 20-year-old woman with a CS-related mutation in ABCC9 resulting in clinical manifestations, including congenital hypertrichosis, facial dysmorphism and cardiomegaly. As of yet, no treatment is available for CS.Little is known about the impact of CS and similar (skin) conditions on the life of affected individuals, and about their needs and preferences in this regard. Hence, we describe the psychosocial implications our case had to deal with immediately after her diagnosis. In addition, we outline her significant progress in managing disease-associated features and emotiona

SUBMITTER: Roessler HI 

PROVIDER: S-EPMC8276143 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature