Skin fragility disorder misdiagnosed as child abuse: a cautionary tale

Mack, Heather G; Chen, Fred K; Grigg, John R

doi:10.5694/mja2.52369

Topics

To the Editor: We read with interest the report by Willems and colleagues1 on skin fragility disorder being misdiagnosed as child abuse, which highlights genetic cutaneous mimics of child abuse. We highlight retinal mimics of child abuse and reiterate the role of genetic testing in selected cases.

1 University of Melbourne, Melbourne, VIC
2 Melbourne Health, Melbourne, VIC
3 Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, WA
4 University of Sydney, Sydney, NSW

Correspondence: hmack@eyesurgery.com.au

Competing interests:

Heather Mack has served on advisory boards for Novartis and Roche‐Genentech. Fred Chen has received speaker fees from Novartis and Roche‐Genentech, and has served on advisory boards for Novartis and PYC Therapeutics. John Grigg has served on an advisory board for Novartis.

1. Willems A, Weston L, Robertson S. Skin fragility disorder misdiagnosed as child abuse: a cautionary tale. Med J Aust 2024; 220: 71‐73. https://www.mja.com.au/journal/2024/220/2/skin‐fragility‐disorder‐misdiagnosed‐child‐abuse‐cautionary‐tale#:~:text=Through%20keeping%20an%20open%20mind,no%20cure%20for%20epidermolysis%20bullosa
2. Browning T, Bricknell S, Bryant W, et al. Filicide offenders. Trends and issues in crime and criminal justice. Canberra: Australian Institute of Criminology, 2019. https://www.aic.gov.au/publications/tandi/tandi568 (viewed Mar 2024).
3. Emerson MV, Jakobs E, Green WR. Ocular autopsy and histopathologic features of child abuse. Ophthalmology 2007; 114: 1384‐1394.
4. de Carvalho ER, Robson AG, Arno G, et al. Enhanced S‐cone syndrome: spectrum of clinical, imaging, electrophysiologic, and genetic findings in a retrospective case series of 56 patients. Ophthalmol Retina 2021; 5: 195‐214.
5. Laura DM, Ashkenazy N, Anzaldo EF, et al. Retinal folds as a clinical feature of X‐linked retinoschisis: a series of three cases. Ophthalmic Surg Lasers Imaging Retina 2022; 53: 326‐331.

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