Congenital onychodysplasia

Classification according to ICD-10
Q84.6	Other congenital malformations of the nails
ICD-10 online (WHO version 2019)

The Congenital onychodysplasia or Iso-Kikuchi syndrome is a rare largely limited to Japanese disease with Cardinal infection of fingernails.

Synonyms are: engl. Congenital Onychodysplasia of the Index Finger (COIF), COIF syndrome.

The name refers to the authors of the first descriptions by R. Iso 1969 and Ichiro Kikuchi 1976.

distribution

The incidence is given as 4.2 diseases per 100,000 live births and is largely limited to Japanese. Inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the 17p13 gene .

Clinical manifestations

Typical symptoms of the disease are longitudinal stripes, thinning and impaired shaping of the fingernails with exposed nail edges. In half of the patients there is a reddish protrusion in the proximal nail plate. The index finger is always, mostly all fingernails and toenails are affected.

An association with the discoid form of lupus erythematosus has been reported

Diagnostic criteria are:

Occurrence during or shortly after birth
Unilateral or bilateral involvement of the index finger
Variable appearance of the fingernails
Family burden (not always)
Often additional bony changes

Differential diagnosis

Must be distinguished is the Ectodermal dysplasia due to lack of alopecia and palmoplantarem keratoderma and normal tooth development.

literature

E. Haneke, B. Kienlein-Kletschka: Congenital onychodysplasia: Iso-Kikuchi syndrome. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 35, No. 9, September 1984, ISSN 0017-8470 , pp. 468-471, PMID 6480349 .
J. Neumann, H. Brunzlow, D. Loreck: Congenital Onychodysplasia (Iso-Kikuchi Syndrome). In: Dermatological Monthly. Vol. 173, No. 11, 1987, ISSN 0011-9083 , pp. 663-669, PMID 3436476 .
T. Biedermann, CG Schirren, H. Schirren, CA Sander: Congenital onychodysplasia (Iso-Kikuchi syndrome). In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 46, No. 1, January 1995, ISSN 0017-8470 , pp. 53-56, PMID 7875973 .

Individual evidence

↑ ^a ^b Congenital onychodysplasia. In: Orphanet (Rare Disease Database).
^ R. Iso: [Congenital nail defects of the index finger and reconstructive surgery]. In: Seikeigeka. Orthopedic surgery. Vol. 20, No. 14, November 1969, ISSN 0030-5901 , pp. 1383-1384, PMID 5393133 .
^ I. Kikuchi, S. Abe, F. Amano: Congenital onychodysplasia of the index fingers. In: Archives of Dermatology . Vol. 112, No. 12, December 1976, ISSN 0003-987X , p. 1788, PMID 1008572 .
↑ K. Erickson, GJ Raugi: Congenital onychodystrophy of the index fingers. e-Medicine 2007, pp. 1-8.
↑ ^a ^b Congenital onychodysplasia. In: Online Mendelian Inheritance in Man . (English)
↑ ^a ^b ^c L. Padmavathy, L. Rao, N. Ethirajan, R. Kanthimathi, M. Adaikappan: Iso-Kikuchi syndrome with absence of ring fingers and metacarpal bone abnormality. In: Indian Journal of Dermatology, Venereology and Leprology . Vol. 74, No. 5, 2008, pp. 513-515, PMID 19052427 .

[Orpha-1] Congenital onychodysplasia. In: Orphanet (Rare Disease Database).

[2] R. Iso: [Congenital nail defects of the index finger and reconstructive surgery]. In: Seikeigeka. Orthopedic surgery. Vol. 20, No. 14, November 1969, ISSN 0030-5901 , pp. 1383-1384, PMID 5393133 .

[3] I. Kikuchi, S. Abe, F. Amano: Congenital onychodysplasia of the index fingers. In: Archives of Dermatology . Vol. 112, No. 12, December 1976, ISSN 0003-987X , p. 1788, PMID 1008572 .

[4] K. Erickson, GJ Raugi: Congenital onychodystrophy of the index fingers. e-Medicine 2007, pp. 1-8.

[omim-5] Congenital onychodysplasia. In: Online Mendelian Inheritance in Man . (English)

[Padma-6] L. Padmavathy, L. Rao, N. Ethirajan, R. Kanthimathi, M. Adaikappan: Iso-Kikuchi syndrome with absence of ring fingers and metacarpal bone abnormality. In: Indian Journal of Dermatology, Venereology and Leprology . Vol. 74, No. 5, 2008, pp. 513-515, PMID 19052427 .