Related Experiment Video
Updated: Jul 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Utsav P Vaghani1, Abdul K Qadree2, Sarang Mehta1
1Internal Medicine, Smt. Nathiba Hargovandas Lakhmichand (NHL) Municipal Medical College, Ahmedabad, IND.
Abstract:
Bloch-Sulzberger Syndrome, also known as Incontinence Pigmentosa (IP), is a rare genodermatosis in which skin involvement occurs in almost all patients. Additionally, other ectodermal tissues like the central nervous system, eyes, hair, nails, and teeth may also be impacted. An X-linked dominant inheritance pattern characterizes the condition. But in our situation, IP caused a mutation in the body cells. There are four steps to the dermatological results. We describe the case of a 12-day-old female who had cutaneous features. It is crucial to make an early diagnosis using criteria like cutaneous symptoms so that quick diagnoses and interventions for other organs can be made to control more deadly complications in the future.
More Related Videos
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Sex-linked Disorders
X-linked Traits
Pedigree Analysis
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Genetic Lingo
Inborn Errors of Metabolism