Congenital Onychodystrophy of the Index Fingers Differential Diagnoses

Updated: Feb 13, 2019
  • Author: Stefanos F Haddad, MD; Chief Editor: William D James, MD  more...
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Diagnostic Considerations

Clouston syndrome (hidrotic ectodermal dysplasia)

Patients with this syndrome are born with nails, but then lose them. These patients exhibit patchy alopecia as well as a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma. [14] They lack the radiographic abnormalities of the distal phalanges found in patients with congenital onychodystrophy of the index finger (COIF).

Congenital anonychia

Unlike patients with congenital onychodystrophy of the index finger, patients with congenital anonychia lack skeletal abnormalities of the distal phalanges.

Fetal antiepileptic drugs (AEDs) syndrome

Patients with this syndrome have major malformations, minor anomalies, microcephaly, cognitive impairment, cleft lip and/or cleft palate, heart defects, growth retardation, midface hypoplasia, hypoplasia of the fingers. The physical features of infants exposed to various anticonvulsant drugs are not the same.

Nail-patella syndrome

One third of patients with nail-patella syndrome have abnormalities limited to just the thumbnails, one third have abnormalities of the thumbnails and other selected nails, and one third have abnormalities of all fingernails.

Poland syndrome

Distinguishing features of this syndrome are a congenital absence of the pectoralis major muscle on the ipsilateral side of the digits displaying congenital onychodystrophy of the index finger–like findings.

DOOR syndrome

Individuals can have congenital onychodystrophy and no related findings. However, identification of vestigial nails (onychodystrophy) is crucial for the correct diagnosis of DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome. [15]

Olmsted syndrome

This is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. This is a slow, progressive disease without satisfactory treatment. [16]

Differential Diagnoses