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Young adult with Cantú syndrome: dealing with a rare genetic skin disorder
  1. Helen I Roessler1,
  2. Gijs van Haaften1 and
  3. Mieke M van Haelst2
  1. 1Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands
  2. 2Department of Clinical Genetics, Amsterdam University Medical Center, Locatie AMC, Amsterdam, The Netherlands
  1. Correspondence to Dr Mieke M van Haelst; m.vanhaelst{at}


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 emotional stress prompted by considerable personal development and an increase in confidence. This example shows that a normal lifestyle is achievable for (newly diagnosed) individuals despite suffering from CS or a related skin disorder.

  • genetics
  • dermatology

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  • Contributors HIR: Main author, drafted the case report, collected the data of the patient, worked on the interpretation of the test results, communicated with the patient about the case report and searched for and selected the relevant literature. GvH: Language editing and revising the work for important intellectual content. MMvH: Clinical genetics counselling of the patient, collected data about the patient, communicated with the patient about the case report, writing assistance and revising the work for important intellectual content.

  • Funding This study was funded by E-Rare (I-2101-B26).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.

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