Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a “rare disease” by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

Congenital Anonychia with Ectrodactyly of 5th Finger

PURPOSE: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. METHODS: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. RESULTS: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. CONCLUSION: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.

Two Cases of Corn Associated with Congenital Aphalangia and Anonychia / 대한피부과학회지

Absent terminal phalanges are often associated with corresponding omission of the associated nail. Lack of phalanges may arise in isolation or may be associated with other skeletal or dental abnormalities. We report two cases of corn associated with congenital aphalangia and anonychia in a 3-year-old child and a 22-year-old woman.

Congenital Anonychia of the Toes with Absence of Underlying Phalangeal Bones

Congenital absence of nails usually occur as a rare isolated anomaly or combined with other ectodermal defects. This anomaly is regarded as an inherited disorder either dominantly or recessively but quite a few cases were reported as sporadically developed. The patient was a 2-month-old girl who had no nails on both her 2nd, 3rd toes but had rudimentary nails on her left big toe and both 4th toes at birth. We could not find any other congenital deformity, any family history of inherited diseases related to anonychia. Radiological findings revealed no visualization of both 4th distal phalanges, only. We report this case as congenital anonychia of a sporadic type which may have developed independently from an underlying bone abnormality. We also review other reported cases in the literature.