Absent nails

CASE DETAILS

A 42-year-old male presented with a congenital absence of the nail on the right middle finger and short, thickened nails on the left middle and ring fingers [Figure 1]. There was no history of previous trauma or greenish discoloration of nails. There was no family history of any nail deformity. On examination, there was anonychia over the right middle finger along with micronychia over the left middle and ring fingernails. There was no deformity of any of the toenails. The rest of the cutaneous and systemic examination was within normal limits. Onychoscopy did not show any specific structural changes. Radiography of the hands revealed an absent terminal phalanx of the right middle finger and hypoplastic terminal phalangeal bones of the left middle and ring fingers.

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Figure 1:

A 42-year-old male patient with absent nail over the right middle finger along with small nails over the left middle and ring fingernails.

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QUESTION

What is your diagnosis?

DIAGNOSIS

Isolated congenital aplasia and hypoplasia of fingernails.

DISCUSSION

Congenital onychodysplasia is a rare malformation that may be associated with complex underlying syndromes such as nail-patella syndrome, ectodermal dysplasia, and brachydactyly.^[1] In congenital onychodystrophy of the index fingers or Iso-Kikuchi syndrome, nail dysplasia of only the index fingers is associated with underlying bone abnormalities. However, congenital dysplasia of other fingernails without any structural bony abnormalities is a rare finding.

The findings in this patient did not fit into any of the known entities. Thus, this rare case of isolated congenital aplasia and hypoplasia with corresponding phalangeal bones’ hypoplasia supports the theory of bone-dependant nail formation.^[2]