peculiar facial appearance and generalized brachydactyly in a patient with congenital...

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  • American Journal of Medical Genetics 98:330335 (2001)

    Brief Clinical Report

    Peculiar Facial Appearance and GeneralizedBrachydactyly in a Patient With CongenitalOnychodysplasia of the Index Fingers(Iso-Kikuchi Syndrome)

    P. Franceschini,1* D. Licata,1 A. Guala,1 G. Di Cara,1 and D. Franceschini2

    1Dipartimento di Scienze Pediatriche e dellAdolescenza, Servizio di Genetica Clinica, Universita` di Torino, Italy2II Divisione Ortopedia e Traumatologia ASO CTO-CRE-M.Adelaide, Torino, Italy

    We report on a patient with clinical mani-festations consistent with a diagnosis ofcongenital onychodysplasia of the indexfingers (COIF). This syndrome has beenfound mainly in Japan, and as far as weknow, this is the first case reported in Italy.In addition to the typical bilateral split nailof the second finger, the patient showedbilateral inguinal hernia, a peculiar face,and short hands. The metacarpophalangealprofile showed a generalized brachydactylywith all the hand long bones below 3 SD.The patients father showed a peculiar kindof micronychia on both the fifth toes, sug-gesting a possible autosomal dominanttransmission of the syndrome. In uteroischemia of the palmar digital artery and adysplastic change in the crescent-shapedcap of the distal phalanx are the two maincandidate pathogenetic mechanisms thathave been proposed. In our opinion, thegradual broadening of the spectrum of thissyndrome brings support to the hypothesisof a basal dysplastic pathogenetic mechan-ism involving not only the index fingers butalso perhaps other tissues outside. We thinkthat for the moment the definition of COIFfor this syndrome should be maintained, thealternative proposed term congenital ony-chodysplasia being too indefinite.# 2001 Wiley-Liss, Inc.

    KEY WORDS: Iso-Kikuchi syndrome; COIF;nail dysplasia; brachydac-tyly


    Congenital onychodysplasia of the index fingers(COIF), or Iso-Kikuchi syndrome, is a rare clinicalentity characterized by various nail dysplasias com-monly involving the index fingers, but not infrequentlythe contiguous middle fingers and thumbs [Ohtsu,1989; Kikuchi, 1991]. The nail dysplasia may consist ofirregular lunula, malalignment, micronychia, polyoni-chia, and anonychia. X-ray examination may show theterminal phalanx to be slightly hypoplastic with nar-rowing of the distal end and with a Y-shaped terminalsplitting visible only in lateral projections [Kikuchiet al., 1985]. The first picture of a COIF patient waspublished in 1964 by Onizuka and Soeda [1964],without mention of its diagnosis. Kamei [1966] reporteda case of polyonychia congenita without polydactyly,not attaining the definitive COIF diagnosis. Iso [1969a,1969b] first described a defect as congenital nail defectof the index fingers and Kikuchi et al. [1974] proposedits present name (COIF). Although COIF has beenmainly reported in Japan, some cases have been alsoreferred in USA [Millman and Strier, 1982; Baran andStroud, 1984], in England [Harper and Weber, 1985], inFrance [Baran, 1980; Claudy, 1980], and in Korea[Youn et al., 1996].

    We report a boy with congenital onychodysplasiawhose main features were splitting of nails of bothindex fingers and generalized brachydactyly. To ourknowledge, this is the first case of COIF so far reportedin Italy.


    A 10-year-old Italian boy presented to our clinic withabnornal nail plates on both index fingers. He was the

    *Correspondence to: Dr. Piergiorgio Franceschini, Dipartimentodi Scienze Pediatriche e dellAdolescenza, Servizio di GeneticaClinica, Universita` di Torino, Piazza Polonia 94, I-10126 Torino,Italy. E-mail: [email protected]

    Received 12 April 2000; Accepted 17 October 2000

    Published online 11 January 2001

    2001 Wiley-Liss, Inc.

  • first born to non-consanguineous parents after 40 weeksgestation with a body weight of 2.7 kg. Cesarean sectionwas performed for face presentation. At age two years,the patient was treated for bilateral inguinal hernia. Atnine years and 11 months, he had a generalized tonic-clonic seizure without fever. EEG showed a left frontalfocus and treatment with anticonvulsants was startedthereon. Neuropsychiatric evaluation showed moderatemental retardation. Orthopedic examination at 10 yearsbecause of limping, followed by a radiological study ofthe feet, demonstrated left calcaneal osteochondrosis.

    At physical examination, the boy showed relativemacrocephaly (head circumference 54.6 cm, 75th-90thcentile), medial flare of left eyebrow, left eye esotropia,long palpebral fissures, malar hypoplasia (Fig. 1), higharched palate, dental crowding, a single 22 cm cafe` aulait spot and two white spots on dorsal region, slightindication of shawl scrotum, short hands (hand length13.5 cm,


    Splitting of the index finger nail with unequal growthof the two components seems to be the main character-istic of COIF [Iso, 1969a; Murakoa et al., 1977], but thefull spectrum of the nail dysplasia include irregularlunula, malalignment, micronychia (hypoplastic andrudimental), polyonychia (split rudimental), and ano-nychia [Baran, 1980; Kikuchi et al., 1981; Baran andStroud, 1984] (Table I). In polyonychia, there are twosmall incomplete nails on one index finger, with theradial one being smaller than its ulnar counterpart. Inmicronychia, a small nail is seen on the ulnar aspect of

    the index finger, as if the smaller part on the radialaspect of polyonychia had disappeared. According toKikuchi et al. [1981], this kind of micronychia in COIFis different from the usual form which is located on thecentral part of the finger. Besides mild forms of COIFwhere mild nail anomalies, such hemionychogriphosisor nail malalignment, have been reported, severe formshave also been described with anonychia on both indexfingers. Additional findings have been reported in somepatients: cutaneous or osseous syndactyly, congenitalrestriction of the distal interphalangeal joint of indexfinger, and ear anomaly (two patients) [Kitayama andTsukada, 1983]. Brachymesophalangy of little fingers

    Fig. 3. (a) X-rays of the patients hands. Note the hypoplastic terminal tuft of both index fingers. (b) X-rays of the patients feet. Note short toes andcone shaped epiphyses of the second, third and fourth proximal phalanges.

    Fig. 4. Patients metacarpophalangeal profile: note diffuse shortness of all the hand long bones.

    332 Franceschini et al.

  • has been described in six patients [Kikuchi et al., 1974;Kinoshita and Nagano, 1976; Kitayama and Tsukada,1983] (Table II).

    In addition to the pathognomonic feature of COIF(polyonichia, split nail variant), our patient shows apeculiar face quite dissimilar to those of his parents,brachydactyly involving all the hand long bones asshown by the metacarpophalangeal profile, and bilat-eral inguinal hernia. Brachydactyly has never beenexpressly reported in COIF, but in two of the fivepatients studied by Millman and Strier [1982], thehands were described as broad with shortened digits.In no case did the hands seem to have been measured.As regards the face, we do not have any terms ofcomparison and, since no particular face has everbeen related to COIF, our observation may be coin-cidental. The same reasoning could also hold foringuinal herniae. The mild mental retardation of ourpatient may be related to epilepsy, probably inheritedfrom the mother. We think that, for the present, thereare no grounds to keep isolated COIF forms separatedfrom those with associated malformations.

    The kind of micronychia present in the feet of ourpatients father deserves some consideration. In ouropinion, this is not the usual toe nail hypoplasia/dysplasia frequently seen in the fifth toe of adults,sometimes representing a familiar variant. The nailconfiguration in this case is quite peculiar, lacking the

    TABLE I. Distribution of Index Finger Anomalies in 90 PatientsWith COIF*

    Number offingers %

    Type of nail Anonychia 16 10.8anomalies Micronychia 78 52.7

    Polyonychia 45 30.4Hemionychogriphosis 5 3.4Malalignement 4 2.7

    *Bilateral involvement, 58; monolateral, 32.From: Millman and Strier [1982]; Samman [1983]; Kitayama and Tsukada[1983]; Baran [1984]; Samman [1984]; Harper and Beer [1985]; Miura andNakamura [1990]; Youn et al. [1996]; present case.

    Fig. 5. Micronychia of fifth toes of the patients father.

    TABLE II. Familiarity and/or Associated Anomalies in COIF

    Authors Family recurrences Number of patients with associated defects

    Kikuchi et al. [1974] 2 - Brachymesophalangy of 5th fingersMaeda [1975] 1 (brother & sister) Kinoshita and Nagano [1976] 2 - Brachymicromesophalangy of 5th fingers

    1 - Cutaneous II-III fingers syndactylySamman [1978] 1 (?) Claudy [1980] 1 (father & son) Millman and Strier [1982] 1 (9 patients) 1 - Broad hands with short fingers 5th fingers clinodactyly

    1 - 5th fingers clinodactyly 1 - Broad hands with short fingers

    Kitayama and Tsukada [1983]

    1 - Onychodysplasia of right 3rd finger brachymetacarpia of left 5thfinger cutaneous syndactyly of right 2nd-3rd-4th fingers osseoussyndactyly of left 2nd-4th fingers

    1 - Cutaneous syndactyly of both 3rd-4th fingers cutaneous syndactyly ofright 2nd-3rd and left 4th-5th toes brachymesophalangy of left 5th finger incontinentia pigmenti of Bloch-Sulzberger ear anomaly

    1 - Ear anomaly 1 - Restriction of distal interphalangeal joint of left 2nd finger

    1 - Cutaneous syndactyly of left 2nd-3rd fingers restriction of distalinterphalangeal joint of left 2nd finger

    1 - Simian creaseSamman [1984] 1 (2 sisters)? Koshimizu et al. [1984] 1 (identical twins) Amano et al. [1985] 1 (2 siblings) Miura and Nakamura [1990] 1 (mother & son)

    2 - Brachymesophalangy of 5th finger

    1 - Osseous syndactyly of 3rd-4th fingers brachymesophalangy o