Related Experiment Video
Updated: Jul 25, 2025

06:16
Author Spotlight: Unraveling the Pathogenesis of Age-Related Macular Degeneration and Discovering Potential Therapies
Published on: July 28, 2023
2.6K
Inherited Reticulate Pigmentary Disorders
Min-Huei Lin1, Pei-Chen Chou1, I-Chen Lee1
1School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
Genes
|June 28, 2023
Summary
Reticulate pigmentary disorders (RPDs) are inherited skin conditions with varied pigmentation patterns. This review details the clinical, histological, and genetic differences in inherited RPDs for better understanding.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Reticulate pigmentary disorders (RPDs) encompass inherited and acquired skin conditions.
- RPDs are characterized by distinct patterns of hyperpigmented and/or hypopigmented macules.
- While reticulate pigmentation is common, clinical and genetic variations exist across RPDs.
Purpose of the Study:
- To review the clinical, histological, and genetic variations of inherited reticulate pigmentary disorders.
- To provide a comprehensive overview of the spectrum of inherited RPDs.
- To highlight ethnic predispositions for certain RPDs.
Main Methods:
- Literature review of inherited reticulate pigmentary disorders.
- Analysis of clinical presentations, histological findings, and genetic underpinnings.
- Comparative review of distinct RPD subtypes.
Main Results:
- Inherited RPDs include DSH, DUH, RAK, DDD, DKC, NFJS, DPR, and X-linked RPD.
- Specific RPDs like DSH, DUH, and RAK are more prevalent in East Asian populations.
- Dowling-Degos disease (DDD) is more common in Caucasians but also occurs in Asian countries.
Conclusions:
- Inherited RPDs present with diverse clinical, histological, and genetic features.
- Understanding these variations is crucial for accurate diagnosis and management.
- Ethnic variations in RPD prevalence are noted for specific conditions.
Related Concept Videos
Photoreceptors and Visual Pathways
6.1K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.1K
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Pedigree Analysis
84.5K
Overview
84.5K
Pleiotropy
40.7K
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,...
40.7K

