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Endgames Case Review

A child with multiple hypopigmented lesions

BMJ 2021; 372 doi: https://doi.org/10.1136/bmj.m4844 (Published 06 January 2021) Cite this as: BMJ 2021;372:m4844
  1. Ruojun Wang, dermatologist12,
  2. Zhimiao Lin, dermatologist12
  1. 1Department of Dermatology, Peking University First Hospital, 8 Xishiku Street, Beijing 100034, China
  2. 2Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Centre for Skin and Immune Diseases, Beijing, China
  1. Correspondence to: Z Lin zhimiaolin{at}bjmu.edu.cn

A 3 year old girl presented with multiple hypopigmented body lesions that had been present since birth.

On examination, about 20 pale macules and patches were visible on her trunk and neck. The lesions showed limited vascularisation after rubbing, which is a characteristic feature of naevus anaemicus (fig 1). She also had about 30 café au lait macules (CALMs)—well demarcated, brown macules on the trunk and neck (0.2 cm to 1 cm in diameter) (fig 1). The patient was otherwise healthy.

Fig 1

Multiple naevus anaemicus and café au lait macules on back of a 3 year old girl

Molecular testing of the NF1 gene showed a heterozygous nonsense variation of c.4537C>T (p.R1513*).

Questions

  • 1 What is the diagnosis?

  • 2 What are the differential diagnoses of CALMs?

  • 3 What is naevus …

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