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BMJ Case Reports 2017; doi:10.1136/bcr-2017-222743
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Congenital non-syndromic anonychia totalis with acroosteolysis

  1. Pankaj Jorwal
  1. Department of Internal Medicine, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Dr Pankaj Jorwal, pankajjorwal.aiims{at}gmail.com
  • Accepted 27 October 2017
  • Published 8 November 2017

Description

A 15-year-old boy presented with a history of absence of fingernails and toenails since birth. He was the first born of a non-consanguineous marriage, delivered vaginally at term with normal birth weight. His mother admitted to excessive consumption of opioid analgesics (ethyl morphine derivatives) during all three trimesters of her first pregnancy, which she discontinued subsequently. He was otherwise healthy, with age-appropriate growth, development and intelligence. His parents and two younger siblings were unaffected.

Examination revealed complete absence of all 20 fingernails and toenails (figure 1). Tips of digits were soft, with absence of nail folds, but small keratinised nail plates were present in middle toes bilaterally (figure 2). Skin, teeth and hair were normal. Rest of the general physical and systemic examination was unremarkable with no dysmorphic features. Radiography of hands revealed hypoplasia of terminal phalanges involving all digits, suggestive of acroosteolysis (figure 3). Rest of the skeletal survey was normal. Visual acuity and pure tone …

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