A rare differential for multiple café-au-lait macules: primary microcephaly-3 caused by recessive mutations in CDK5RAP2. Case report and literature review.

Authors

DOI:

https://doi.org/10.26326/2281-9649.33.3.2508

Keywords:

microcephaly, café au lait spots

Abstract

Primary microcephaly-3 is an inherited disease transmitted with an autosomal recessive trait. Microcephaly is associated with multisystem malformations of variable severity that require a multidisciplinary assessment. The dermatologist intervenes to evaluate the café au lait spots and other associated skin dyschromias. A case of MCPH3 was reported and a review of the literature cases was performed, with reference to its dermatological manifestations.

Author Biography

C. O'Connor, South Infirmary Victoria University Hospital

Dr Cathal O’Connor is a PhD fellow with the Irish Clinical and Academic Training (ICAT) programme, a Specialist Registrar in Dermatology with the Royal College of Physicians of Ireland (RCPI), and is dual training in general paediatrics,. He graduated from University College Cork in 2013 and undertook Basic Specialist Training with RCPI in both Paediatrics and Adult Medicine. He has dual membership of the RCPI in Paediatrics (2015) and Medicine (2017). His PhD study (the SPINDLE study) is examining the impact of eczema on sleep disturbance in infants, and is being performed in the INFANT research centre in University College Cork.  He is author of several dermatology textbook chapters, has over 70 academic publications and has a special interest in paediatric dermatology, with primary research interests including eczema and genetic skin disease. He has been chosen as a 'Future Leader' by the executive boards of the European Society for Paediatric Dermatology for 2021-2024 and the European Society of Dermatological Research for 2023-2024. He is the programme lead for the RCPI postgraduate certificate in dermatology. 

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Published

2023-07-24

How to Cite

Finnegan, P., Bourke, J., & O’Connor, C. (2023). A rare differential for multiple café-au-lait macules: primary microcephaly-3 caused by recessive mutations in CDK5RAP2. Case report and literature review. European Journal of Pediatric Dermatology, 33(3), 153–5. https://doi.org/10.26326/2281-9649.33.3.2508

Issue

Vol. 33 No. 3 (2023)

Section

Original articles