ABSTRACT
To report 2 cases of Iso-Kikuchi syndrome, both of which were congenital. Case 1, a 7-month-old female infant, visited the hospital due to abnormalities in the nail plate of the left index finger for 7 months; case 2, a 3-year-old male child, also visited the hospital due to abnormalities in the nail plate of the left index finger for 3 years. The 2 patients both presented with 2 tiny, independent nail plates on both sides of the nail bed of the left index finger, instead of normal nail plates. Based on their clinical features, the 2 patients were diagnosed with Iso-Kikuchi syndrome (congenital onychodysplasia of the index finger). The mother of case 1 had a history of progesterone use to prevent miscarriage during pregnancy, the mothers of the two patients both suffered from hypothyroidism and continued to receive thyroid hormone replacement therapy during pregnancy, and the mother of case 2 had a history of gestational diabetes. It is still unclear whether these comorbidities and drugs are directly related to the occurrence of Iso-Kikuchi syndrome.
ABSTRACT
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder, and its pathophysiology is still unclear and most cases occur sporadically. Cutaneous lesions are observed at birth with a marbled bluish and deep-purple appearance. The associated anomaly is manifest as body asymmetry, macrocephaly, hydrocephalus, mental retardation, syndactyly and congenital glaucoma. We report our experience of CMTC1 in a female infant with the gestational age of 34 weeks and 6 days and birth weight of 2,300 g who was born by cesarean section with abnormal skin lesions. The cutaneous lesions covered most of the lower body and they faded as she continues to grow. She also had onychodysplasia in her left 2nd phalanges. In this case, close follow up by not only pediatricians but also ophthalmologist and neurologists to treat various forms of lesions involved, though the prognosis of CMTC is generally good.
Subject(s)
Female , Humans , Infant , Pregnancy , Birth Weight , Cesarean Section , Follow-Up Studies , Gestational Age , Glaucoma , Hydrocephalus , Intellectual Disability , Megalencephaly , Parturition , Prognosis , Skin , Skin Diseases, Vascular , Syndactyly , Telangiectasis , Vascular MalformationsABSTRACT
Congenital onychodysplasia of the index fingers (COIF, Iso and Kikuchi syndrome) is a congenital disorder characterized by various forms of nail dysplasias mainly-involving the index fingers. Its etiopathogenesis is still unknown, but ischemia of the palmar digital arteries has been suggested to play a role in this disorder. Although not specific to it, a Y-shaped bifurcation of the distal affected phalanx is a characteristic finding of this syndrome. In this review, we report a case of COIF who presented with bilateral micronychia with a Y-shaped bifurcation of the distal phalanx.
Subject(s)
Arteries , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Fingers , Ischemia , NailsABSTRACT
Congenital onychodysplasia of the index fingers (COIF) is a rare disorder characterized by various forms of nail dysplasia which are mainly limited to the index fingers. The aetiology of the disease is still a matter of debate. COIF is characterized by five criteria: congenital occurrence, unilateral or bilateral index finger involvement, variability of nail appearance, possible hereditary involvement, and frequently associated bone abnormalities. We report a case of COIF, which is associated with Dandy-Walker variant.
Subject(s)
Dandy-Walker Syndrome , FingersABSTRACT
Congenital onychodysplasia of the index fingers(COIF) is characterized by hypoplasia or dysplasia of the nails peculiarly restricted to the index fingers. The cause is unknown, but clinical study suggested that ischemia of the finger at a certain period of fetal life might play an important role in its pathogenesis. Major characteristics of this condition are anonychia, micronychia, and polyonychia restricted to the index fingers. We report two cases of COIF, one of which was presented with anonychia of the left index finger, micronychia of the right index finger, and ventricular septal defect of the heart in a 2-week-old male baby, and the other which was presented with polyonychia of the right index finger in a 1-month-old male baby.
Subject(s)
Humans , Infant, Newborn , Male , Fingers , Heart , Heart Septal Defects, Ventricular , IschemiaABSTRACT
Congenital onychodysplasia of the index fingers(COIF) is a rare condition of the nails, characterized by the following : (1) congenital occurrence, (2) unilateral or bilateral index finger involvement, (3) variability in nail appearance such as anonychia, micronychia, and polyonychia, (4) possible hereditary involvement, and (5) frequently associated bone anomalies. A 7-week-old male baby with an atrial septal defect presented with micronychia of the left index finger. Roentgenogram of both hands revealed a bone defect of the left 2nd distal phalanx. To our knowledge, distal phalangeal bone defect has not been previously described in this disease. We report a case of COIF with atrial septal defect.