Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report

Dyala Sayed Ahmad1, Rim Nasser1, Alaa Mahmoud1

  • 1Department of Dermatology and Sexually Transmitted Disease, Tishreen University Hospital, Latakia, Syria.

Related Concept Videos

Karyotyping01:17

Karyotyping

Overview
68.0K
Sex-linked Disorders01:43

Sex-linked Disorders

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.
108.2K
Pedigree Analysis01:35

Pedigree Analysis

Overview
88.7K
Case Studies01:22

Case Studies

There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
13.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
688