Dermatology clinical case

Leitão, Cátia; Pereira, Isabel; Tenente, Joana; Vila-Real, Marta; Oliveira, Ana; Leite, Ana Luísa

http://hdl.handle.net/10400.16/2507

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Abstract(s)

Incontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.

Keywords

Blaschko lines genodermatoses incontinentia pigmenti rare disease

URI

http://hdl.handle.net/10400.16/2507

Citation

Leitão C, Pereira I, Tenente J, Vila-Real M, Oliveira A, Leite AL, Nascer e Crescer - Birth and Growth Medical Journal 2021;30(1): 61-63. doi:10.25753/BirthGrowthMJ.v30.i1.18674