REDISCOVERING

THE PHYSICAL EXAM

Congenital Onychodysplasia of Index Fingers: Iso-Kikuchi Syndrome

A
4-year-old girl presented for evaluation of partial
nail growth of the bilateral index fingers. There
was no history of trauma, complications during
pregnancy, family history of similar eruption, or any other
inciting event. Further history revealed that this nail dys-
trophy was present at birth and it had been unchanged.
Examination showed that the nail plate was present only
in the ulnar one-third of the index fingers bilaterally
(Figure, A; white arrows). There was complete absence
of the nail plate, matrix, and apparatus on the radial
two-thirds of the affected fingernails (Figure, A; black
arrowheads). Plain radiographs showed distal phalangeal
bone protuberance with characteristic Y-shaped
configuration (Figure, B). The constellation of clinical
and radiographic findings is consistent with congenital
onychodysplasia of index fingers. Because the patient did
not have any symptoms, conservative observation was
recommended.
Congenital onychodysplasia of index fingers, also known as
Iso-Kikuchi syndrome, is a congenital nonhereditary nail dis-
order. Iso initially described the nail deformities in 1969 and
subsequently Kikuchi et al defined the associated bone
changes.1,2 Although familial cases have been reported, most
cases are sporadic.3 It commonly affects the radial aspect of
the index fingers and it can have either a unilateral or bilateral
presentation.4,5 There is a full spectrum of nail deformities that
can present with this condition. Micronychia, as seen in our
patient, is the most frequent presentation. Other less Figure. A, Absence of nail apparatus on the radial aspect of
commonly reported presentations include polyonychia, index fingers bilaterally as indicated by the black arrowheads.
anonychia, hemionychoryptosis, malalignment, and lunula Presence of nail plate and apparatus on the ulnar aspect as
indicated by the white arrows. B, Plain radiographs demon-
deformity.4,6 The most common underlying bony abnormality
strate Y-shaped configuration on the affected digit.
is bifurcation of the affected phalanx resulting in a
characteristic Y-shaped configuration on lateral plain
radiographs.4,5
Some authors have speculated vascular compromise dur- Nima Milani-Nejad, MD, PhD
ing development as the underlying mechanism.4,7 There are Division of Dermatology
no definitive data to support this and the sequence of events Department of Internal Medicine
during embryogenesis that result in this deformity remains The Ohio State University Wexner Medical Center
unknown.
Treatment of this condition is mainly conservative as pa- Joy Mosser-Goldfarb, MD
tients typically do not have symptoms.3,5 If needed for func- Department of Dermatology
tional or desired for cosmetic concerns, then surgical Nationwide Children’s Hospital
interventions can be considered. Knowledge of this congen- Columbus, OH
ital entity and its physical examination findings is essential
to prevent unnecessary procedures and workup. n References available at www.jpeds.com

J Pediatr 2020;218:254.
0022-3476/$ - see front matter. ª 2019 Elsevier Inc. All rights reserved.
https://doi.org/10.1016/j.jpeds.2019.10.008

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References
1. Iso R. [Congenital nail defects of the index finger and reconstructive sur-
gery]. Seikei Geka 1969;20:1383-4.
2. Kikuchi I, Horikawa S, Amano F. Congenital onychodysplasia of the index
fingers. Arch Dermatol 1974;110:743-6.
3. Miura T, Nakamura R. Congenital onychodysplasia of the index fingers. J
Hand Surg Am 1990;15:793-7.
4. Baran R, Stroud JD. Congenital onychodysplasia of the index fingers. Iso
and Kikuchi syndrome. Arch Dermatol 1984;120:243-4.
Volume 218  March 2020
5. Crowe D, DiSano K. Congenital onychodysplasia of the index
finger presenting as a congenital bifid nail. Dermatol Online J
2014;20.
6. Youn SH, Kwon OS, Park KC, Youn JI, Chung JH. Congenital
onychodysplasia of the index fingers–Iso-Kikuchi syndrome. A
case involving the second toenail. Clin Exp Dermatol 1996;21:
457-8.
7. Bittar EQ, Parra CA, Ledesma de Prieto G, Briggs E, Ortiz Baeza O.
[Congenital ischemic onychodystrophy (Iso-Kikuchi syndrome) and
chronic lupus erythematosus]. Hautarzt 1988;39:750-2.
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