Intended for healthcare professionals

Endgames Case Review

Subtle skin changes that suggest severe disease

BMJ 2018; 361 doi: https://doi.org/10.1136/bmj.k1336 (Published 18 May 2018) Cite this as: BMJ 2018;361:k1336
  1. Juan Antonio Moreno,
  2. Romero, clinical dermatologist1,
  3. Alba Alvarez,
  4. Abella, clinical dermatologist2,
  5. Daniel Lorenzo, ophthalmologist3,
  6. Ramon Grimalt, clinical dermatologist4
  1. 1Quironsalud Hospital Universitari General de Catalunya. Barcelona, Spain
  2. 2Hospital Universitario Mútua de Terrassa, Terrassa, Spain
  3. 3Hospital Universitari de Bellvitje, Barcelona, Spain
  4. 4Universitat Internacional de Catalunya, Barcelona, Spain
  1. Correspondence to JA Moreno Romero 35844jmr{at}gmail.com

A 53 year old woman presented to the dermatology department with insect bites to the dorsum of the hands. On examination, yellow skin lesions were found on both sides of her neck (fig 1). The lesions, which were confluent papules 2-4 mm in diameter, had appeared several years before. The woman had no other symptoms.

She was taking duloxetine and clonazepam for depression, and dexketoprofen, calcium, and vitamin D supplements for chronic cervical spine pain.

The patient did not recall any other similar cases of skin lesions in her family.

Questions

  • 1. What condition has caused the coalescent yellow papules?

  • 2. What regions of the body are predominantly affected by this disease?

  • 3. How should this patient be managed?

Answers

1. What condition has caused the coalescent yellow papules?

Short answer

Pseudoxanthoma elasticum (PXE), a genetic disease causing yellowish papular lesions and redundant folds in flexural areas.

Discussion

PXE is an autosomal recessive disease caused by a mutation in gene ABCC6 on chromosome 16, which affects the connective tissue, causing ectopic mineralisation and fragmentation of elastic fibres.1 The term “pseudoxanthoma elasticum” was coined to indicate that the yellowish papules of PXE differed from authentic xanthomas (skin lesions caused by the accumulation of fat in macrophage cells) and to indicate that PXE papules are related to elastic tissue fragmentation.

Primary PXE skin lesions are yellowish papules 1 to 5 mm in …

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