Congenital Onychodystrophy of the Index Fingers 

Updated: Aug 24, 2020
Author: Stefanos F Haddad, MD; Chief Editor: William D James, MD 

Overview

Practice Essentials

Congenital onychodysplasia of the index finger (COIF, or Iso-Kikuchi disease) is a rare disorder characterized by the following five criteria:

  • Congenital occurrence

  • Unilateral or bilateral involvement of the index fingers

  • Nail dystrophy

  • Bone abnormalities

  • Possible hereditary component

This infant illustrates the typical presentation o This infant illustrates the typical presentation of congenital onychodysplasia of the index finger (COIF). Examination of the right index finger reveals micronychia. The changes of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman.

Affected individuals and their family members can be reassured that there is usually little functional impairment and that for most affected individuals, the disorder is mainly of cosmetic concern. Sometimes, bone or nail abnormalities need to be addressed with surgery. Certain nail devices can help treat associated pincer deformity. More research needs to be performed to better understand the etiology and hereditary basis of some cases.

Background

Congenital onychodystrophy of the index finger (COIF), a term Kikuchi et al coined in 1974,[1] identifies a clinical syndrome consisting of nail dysplasias of the index fingers associated with underlying bone abnormalities. The first case report of this condition is attributed to Kamei.[2] Iso collected a series of patients with this condition and made the first attempt to define the clinical syndrome. Kikuchi et al observed additional variations in the manifestations of the nail dysplasia and noted the associated radiographic abnormalities of the distal phalanges of the index fingers. The spectrum of underlying bone abnormalities has since been expanded to include the following:

  • A Y-shaped bifurcation of the distal phalanx on lateral view

  • Narrowing and terminal enlargement of the distal phalanx on anteroposterior view

  • Brachymesophalangia (shortening of the middle phalanx of the fifth digit)

  • Syndactyly of the index and other fingers

The clinical spectrum of nail abnormalities has expanded to include malalignment and deformities of nails other than the nails of the index fingers.

Although no evidence from the Iso's series indicates hereditary transmission of congenital onychodystrophy of the index finger,[3] Millman and Strier reported a five-generation family in which nine individuals had congenital onychodystrophy of the index finger.[4] The investigators observed an autosomal dominant pattern of inheritance with variable penetrance.

If data from small series, case reports, and retrospective reviews over 30 years are summarized, the four cardinal features of congenital onychodystrophy of the index finger are the following:

  • Unilateral or bilateral hypoplasia of the index fingernails

  • Deformities of the nails on other fingers

  • Radiographic abnormalities of the distal bony phalanx on the affected fingers

  • Congenital occurrence, which can be either hereditary or sporadic

Pathophysiology

A genetic mechanism most likely underlies the pathophysiology of congenital onychodystrophy of the index finger (COIF).[5, 6] . Most cases are sporadic, but autosomal dominant transmission has been described. Two other proposed theories are (1) in utero ischemic injury and (2) in utero exposure to teratogens.

In utero ischemic injury

On the basis of two cases of syndactyly associated with digital artery hypoplasia and another case of traumatic injury leading to arterial hypoplasia and permanent nail loss, Kitayama and Tsukada proposed that congenital onychodystrophy of the index finger is due to in utero ischemic injury.[7] Kikuchi proposed that ischemia occurs because of an abnormal fetal grip in which the thumbs are pressed on the index fingers during the critical period in the development of the distal phalanx and nail.

Although the association of ischemic injury and nail malformation is of considerable interest, the abnormal grip theory is not consistent with the current understanding of human developmental biology. Bones are mesodermal derivatives, and limbs are the result of the apical ectodermal ridge exerting an inductive influence on limb mesenchyme. This development occurs early in fetal life and therefore seems to exclude the possibility Kikuchi suggested, that is, a grip of the fingers from the fetus causes malformation. Such bony malformations would most likely be present prior to the fetus' ability to grip.

In utero exposure to teratogens

Franceschini et al reported a boy with bilateral hypoplasia of the index fingers associated with mild mental retardation, inguinal hernia, macrocephaly, medial flaring of the eyebrows, esotropia of the left eye, long palpebral fissures, malar hypoplasia, a high-arched palate, clinodactyly of the fifth fingers, and a simian palmar crease.[8] Radiographs of the hands revealed a hypoplastic terminal tuft on both index fingers. They reported this case as congenital onychodystrophy of the index finger and suggested that the other associated anomalies expanded the definition of the congenital onychodystrophy of the index finger syndrome.

Although maternal exposure to antiepileptic drugs (AEDs) was not specifically mentioned in this case report, the findings are consistent with fetal AED syndrome, and, in fact, hypoplasia of the distal digits is a well-recognized finding in the broad spectrum of fetal AED syndrome. The teratogenicity of AEDs is probably related to either their antifolate effects or the metabolic generation of toxic metabolites such as epoxides (arene oxides), especially in individuals who lack epoxide hydrolase. Although no data link in utero AED exposure to the narrow spectrum of congenital onychodystrophy of the index finger, other, as yet unidentified, in utero exposures remain a possible cause of the genetic damage that allows expression of congenital onychodystrophy of the index finger, especially in mothers with epoxide hydrolase deficiency.

Miscellaneous etiologies

A report from 2014 suggests that hepatitis B may have played a role in the development of congenital onychodysplasia of the index fingers.[9] The role of infection is unclear but warrants further consideration.

Etiology

The true cause of congenital onychodystrophy of the index finger (COIF) remains obscure. However, some evidence supports hereditary transmission. Also possible is an unidentified in utero exposure to teratogens in genetically predisposed individuals, allowing expression of congenital onychodystrophy of the index finger. See Differentials for similar conditions and distinguishing features.[10]

Epidemiology

Frequency

United States

The true prevalence of congenital onychodystrophy of the index fingers (COIFs) in the United States is unknown.

International

Most case reports of congenital onychodystrophy of the index finger are from Japan, but whether this predominance is because of increased awareness of the syndrome in Japan or actual prevalence is unclear. A 2008 case report from Brazil may be the first case of congenital onychodystrophy of the index finger reported from South America.[11] An Israeli registry that monitors all congenital anomalies included three cases among approximately 71,000 live births between 1977 and 1997 (4.2 cases per 100,000 live births). Whether this rate is accurate for other areas of the world is unknown.[12]

Race

Most case reports of congenital onychodystrophy of the index fingers are from Japan. However, whether Japanese individuals are affected more often than others or whether Japanese clinicians are simply more aware of congenital onychodystrophy of the index finger syndrome than others (given where the syndrome was first identified) is unclear. Cases have also been reported in whites and in people of East Indian descent.

Sex

Both sexes are equally affected by congenital onychodystrophy of the index fingers.

Age

Congenital onychodystrophy of the index fingers is congenital.

Prognosis

The prognosis is excellent, and patients and their families should be reassured that limitations usually are minimal. The absence of an index fingernail rarely affects the patient's ability to perform functions. Often, the middle fingernail can be used with the thumb if a pincer grip is required. Congenital onychodystrophy of the index finger (COIF) is of cosmetic significance only.

Patient Education

Identification of the syndrome and reassurance for the patient are all that is required. Affected individuals should be advised to clip nails short so as to avoid needless trauma as dystropic nails catch on surfaces while performing activities of daily living. Use of artificial nails to camouflage the problem or using devices composed of shape-memory alloys can help minimize problems resulting from nail curvature.

For patient education resources, visit the Skin Conditions and Beauty Center.

 

Presentation

History

Congenital onychodystrophy of the index finger (COIF) is congenital.

Physical Examination

Physical examination of the fingers, hands, and nail usually allows for diagnosis. Documentation with photographs is recommended so that any changes in nail dystrophy can be easily monitored in follow-up.

Various nail abnormalities are observed, including (1) anonychia (lack of a fingernail), (2) micronychia (a small fingernail deviated to one side of the nail bed), (3) polyonychia (multiple, small, individual nails on one nail bed), (4) hemionychogryphosis (partial thickening and curvature of the fingernail), and (5) irregular lunula and nail malalignment. Appearance is displayed in the image below.

Micronychia of the left index finger and malalignm Micronychia of the left index finger and malalignment of the nail of the middle finger. Courtesy of Veterans Administration Puget Sound Health Care System.

Micronychia is the most common clinical manifestation of congenital onychodystrophy of the index finger (COIF). This differs from the usual form of micronychia, which is located on the central part of the finger. In the micronychia of congenital onychodystrophy of the index finger, the onychodysplasia is deviated to the radial aspect of the involved digits. Additionally, most commonly, the index finger is involved, either unilaterally or bilaterally. Involvement of other fingers and toes is also reported. A 2008 case report describes a patient with congenital onychodystrophy of the index finger who had metacarpal bone abnormalities and no ring finger.[13]

Congenital onychodysplasia of the index finger can present as a bifid nail.[14]

 

DDx

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.[15] 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.[16]

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.[17]

Differential Diagnoses

 

Workup

Approach Considerations

Early recognition can help avoid the need for additional tests and unnecessary treatment. Radiologic studies can help characterize underlying bone abnormalities. Clinical evaluation can help determine if underlying vascular abnormalities may be contributing to the disorder. Family members should be evaluated to help identify a familial basis in some kindreds.

Laboratory Studies

No laboratory studies are necessary in onychodystrophy of the index finger (COIF).

Imaging Studies

Radiographs of the affected digits often reveal a narrow distal phalanx on anteroposterior view, a Y-shaped bifurcation on lateral view, or both, as in the images below.

Radiographs can assist in the diagnosis of congenital onychodystrophy of the index finger, but the findings typically do not affect treatment unless associated surgically correctable anomalies are found.

Y-shaped bifurcation of the distal phalanx of the Y-shaped bifurcation of the distal phalanx of the left index finger in the lateral view. Courtesy of Veterans Administration Puget Sound Health Care System.
Y-shaped bifurcation of the distal phalanx of the Y-shaped bifurcation of the distal phalanx of the right index finger in the lateral view. Courtesy of Veterans Administration Puget Sound Health Care System.

 

 

Treatment

Approach Considerations

Aggressive surgical treatment is generally not warranted. Reassurance and support are important to help affected individuals adjust to living with this disorder.

Medical Care

Congenital onychodystrophy of the index finger (COIF) is of only cosmetic significance. After diagnosis, reassuring the patient and family is all that is necessary. Keeping nails clipped short can be of value to ensure that nails do not catch on surfaces during activities of daily living. Artificial nails can be a useful camouflage in self-conscious individuals.[18]

Surgical Care

Surgical correction may be elected in cases in which syndactyly is present. Pincer nail deformity can be successfully treated with a specialized nail device that helps address nail curvature.[19] Use of a device composed of a shape-memory alloy can help change the nail shape and have a lasting benefit as a new nail grows in.

Consultations

No consultations are necessary in onychodystrophy of the index finger (COIF).

Diet

Congenital onychodystrophy of the index finger (COIF) is not related to or affected by diet.

Activity

The absence of an index fingernail rarely affects the patient's ability to perform functions. Often, the middle fingernail can be used with the thumb if a pincer grip is required. Occasionally, the index finger may be functionally impaired.

 

Medication

Medication Summary

No medical therapy is necessary for onychodystrophy of the index finger.