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Congenital anonychia - Nail and Distal Digit
Other Resources UpToDate PubMed

Congenital anonychia - Nail and Distal Digit

Contributors: Shari Lipner MD, PhD, Bertrand Richert MD, Robert Baran MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Congenital absence of nail involving several digits is rare. Isolated anonychia can be inherited as a dominant, recessive, or sporadic abnormality. Underlying bone abnormalities are often present. Other associated findings include broad, small hands due to skeletal anomalies such as loss of phalanges or isolated fingers and toes (ectrodactyly), syndactyly, or polydactyly.

Patients with nail-patella syndrome, ectodermal dysplasia, anonychia–lymphedema, DOOR (deafness, onycho-osteodystrophy, mental retardation) syndrome, and Iso-Kikuchi syndrome have anonychia and severe skeletal defects. Dyskeratosis congenita is characterized by bone marrow failure, reticulate pigmentation, nail dystrophy, and oral leukoplakia. Anonychia can be seen in children. Absence of nail may be confined to thumbs and great toes or on the fifth finger in Coffin-Siris syndrome. Use of alcohol, morphine, and antiepileptics in pregnancy has been associated with hyponychia and anonychia.

Anonychia has been linked to chromosome 20p13. Homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, have been identified, suggesting that RSPO4 has a crucial role in nail morphogenesis.

Codes

ICD10CM:
Q84.3 – Anonychia

SNOMEDCT:
23610003 – Anonychia

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Acquired anonychia:
Congenital anonychia:
  • Isolated abnormality (dominant, recessive, or sporadic), often combined with skeletal or systemic defects.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:09/16/2019
Last Updated:09/22/2019
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Congenital anonychia - Nail and Distal Digit
A medical illustration showing key findings of Congenital anonychia : Absent nail plate, Fingernails, Present at birth, Toenails
Clinical image of Congenital anonychia - imageId=2158435. Click to open in gallery.  caption: 'Absent fingernails.'
Absent fingernails.
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