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Clinical Image
2 (
2
); 104-105
doi:
10.25259/WJWCH_34_2023

Café-au-lait spots-what lies underneath

Department of Pediatric Hematology and Oncology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
Corresponding author: Purva Ravindra Kanvinde, Department of Pediatric Hematology and Oncology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India. drpurva.rk@gmail.com
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Kanvinde PR, Khurana R, Mudaliar S. Café-au-lait spots-what lies underneath. Wadia J Women Child Health 2023;2(2):104-5.

An 11-year-old girl was diagnosed with high-grade osteosarcoma. She had a history of T acute lymphoblastic leukemia at 6 years of age. On examination, she had multiple café-au-lait spots on the trunk. Due to the presence of café-au-lait spots, 2nd malignancy, and 3rd degree consanguinity, we investigated for cancer predisposition syndromes which revealed a homozygous mutation in PMS2 exon 2 (c.128_130del) suggestive of constitutional mismatch repair deficiency (CMMRD) syndrome.

Family screening revealed multiple café-au-lait spots and the same homozygous mutation in the 5-year-old asymptomatic brother [Figure 1] and heterozygous mutation in the parents.

Figure 1:
Asymptomatic sibling of index case (a) Multiple café-aulait spots on the back. (b) Multiple café-au-lait spots on the trunk.

Differential diagnosis of café-au-lait spots and predisposition to malignancy includes CMMRD, Fanconi anemia, Neurofibromatosis, Bloom syndrome, Noonan syndrome, Tuberous sclerosis, and Ataxia telangiectasia.

CMMRD is a rare autosomal recessive disorder, with an incidence of 1 per million patients, caused by biallelic mutations in MMR genes including MLH1, MSH2, MSH6, or PMS2, resulting in increased susceptibility to mainly hematological, colorectal, and brain tumors. Heterozygous mutations in these genes lead to autosomal dominant Lynch syndrome predisposing to colorectal and endometrial malignancies, usually not before 40 years of age.

Suspicion and early diagnosis of CMMRD help provide appropriate counseling and design surveillance strategies for further malignancies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Conflicts of interest

There are no conflicts of interest.

Use of artificial intelligence (AI)-assisted technology for manuscript preparation

The author(s) confirms that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.

Financial support and sponsorship

Nil.


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