Related Experiment Video
Updated: Apr 7, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
14.5K
Syndrome in Question
Nilton Di Chiacchio1, Julio Cesar Jasso-Olivares2, Nilton Gioia Di Chiacchio1
1Hospital do Servidor Público Municipal, São Paulo, SP, Brazil.
Anais Brasileiros De Dermatologia
|July 2, 2015
Summary
Iso-Kikuchi Syndrome is a rare condition affecting index fingernails and distal phalanges. This case report details typical clinical and radiologic findings, aiding in diagnosis of this unique syndrome.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Dermatology
Background:
- Iso-Kikuchi Syndrome is a rare genetic disorder.
- It is characterized by specific nail abnormalities of the index fingers.
Observation:
- Clinical presentation includes micronychia, polyonychia, anonychia, irregular lunula, malalignment, and hemionychogryphosis.
- Radiographic findings show distal phalanx narrowing on anteroposterior views.
- Lateral radiography reveals a characteristic Y-shaped bifurcation of the distal phalanx.
Findings:
- This case report presents a patient exhibiting the classic clinical and radiographic features of Iso-Kikuchi Syndrome.
- The findings confirm the diagnostic criteria for this rare condition.
Implications:
- Accurate diagnosis of Iso-Kikuchi Syndrome is crucial for appropriate patient management.
- Understanding the distinct radiographic features aids in differentiating it from other skeletal or nail disorders.
- Further research into the genetic basis and long-term prognosis of Iso-Kikuchi Syndrome is warranted.
Related Concept Videos
01:19Autism Spectrum Disorder
1.8K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.8K
01:33Pleiotropy
44.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.1K
01:43Sex Linked Disorders
29.5K
29.5K
01:17Karyotyping
70.2K
Overview
70.2K
01:27Diagnostic and Statistical Manual of Mental Disorders (DSM)
1.8K
The Diagnostic and Statistical Manual of Mental Disorders (DSM) serves as the primary classification system for mental health disorders, providing standardized diagnostic criteria for clinicians and researchers. First published by the American Psychiatric Association (APA) in 1952, the DSM has undergone several revisions to reflect evolving psychiatric understanding. The fifth edition, DSM-5, released in 2013, introduced key updates that expanded diagnostic categories and modified diagnostic...
1.8K
01:43Sex-linked Disorders
111.7K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.7K