Circumferential fingernail

Abstract

We describe a Brazilian girl with a congenital circumferential nail on her left ring finger associated with other bony and soft tissue abnormalities of the affected limb. The tubular nail plate resembling a punch biopsy has been described as a circumferential nail, an extremely rare congenital malformation that can be associated with other congenital anomalies. In our review of the literature, there have only been two previous reports of this unusual condition affecting the fingernails.

Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects

“…Rider [1992] reported on an infant with CPP who had skeletal abnormalities of the forearms. Our patients manifest the combination of anomalies reported by Alves et al [1999], but separately present in the proposita and her sister. Ulnar involvement with CPP in the proposita and ulnar ray digit deficiency and ulnar agenesis in his sister are primarily postaxial defects [Temtamy and McKusick, 1978].…”

“…Both conditions have been separately observed in different members of the same family studied by Westgate and Holmes [1994], and in an other family with a double nail on the 5th toe [Temtamy and McKusick, 1978]. CPP with deficiency limb defects was reported by Alves et al [1999] in a Brazilian girl with congenital circumferential nail on her left 4th finger and an incomplete cleft between the index and middle fingers (i.e., ectrodactyly). These authors also found a hypoplastic 4th finger with heterotopic dorsal skin, short ulna, over-riding radius, and a dislocated radial head on radiographs.…”

“…Present and previous families with affected sibs only [Egawa, 1977;Miura, 1978] may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation could be an alternative explanation for the sporadic cases. Alves et al [1999] first suggested a possible relation between development of CPP and mutation of homeobox genes, which encode for transcription factors that regulate the position and axis of the apical ectodermal ridge. Classical tissue recombination experiments suggest that dorsal-ventral patterning of the distal limb integument is specified by ectoderm.…”

“…In more than 30 reported CPP cases, most of them sporadic and of Japanese origin, clinical expression varies from keratinous projections under the normal nail, hypoplastic, or well-formed nails on the volar surface, bivalve fingernails [Muraoka et al, 1996], clam nails [Kinoshita et al, 1993], claw-like nails [Egawa, 1977], to circumferential or tubular nails [Kalisman et al, 1982, Alves et al, 1999. A unique exception was an ectopic nail located on the heel [Kopera et al, 1996].…”

“…Brachydactyly, camptodactyly, clinodactyly, tapering, and limitation of mobility with absent joint creases and dermatoglyphics have been observed on the affected fingers [Kikuchi, 1985]. Also, in rare instances the volar surfaces of the palms and fingers can be covered with dorsal skin [Kalisman et al, 1982, Alves et al, 1999. On radiographs, hypoplasia of the distal and/or middle phalanx, ''Y'' or ''M'' shaped tip of the distal phalanx, and one instance of toe symphalangism have been reported [Kuniyuki, 1996].…”