Related Experiment Video
Updated: Jul 14, 2026
06:39
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
Published on: August 24, 2018
A unique variant of Darier's disease
C M Peterson1, J L Lesher, O P Sangueza
1Section of Dermatology, Department of Medicine, Medical College of Georgia, 1004 Chafee Avenue, Augusta, GA 30904, USA.
International Journal of Dermatology
|July 17, 2001
Summary
Darier's disease (keratosis follicularis) is a rare genetic skin disorder. This case highlights its characteristic skin lesions and histological findings, aiding in diagnosis.
Area of Science:
- Dermatology
- Genetics
- Histopathology
Background:
- Darier's disease (keratosis follicularis) is an autosomal dominant genodermatosis.
- It is characterized by abnormal keratinization and epidermal differentiation.
Observation:
- A 45-year-old woman presented with hypopigmented macules and pruritic papules on her face, trunk, and extremities.
- Palmoplantar hyperkeratosis and V-shaped fingernail notching were noted.
- Family history suggested a hereditary component.
Findings:
- Histopathological examination revealed epidermal acantholysis and characteristic 'corps ronds'.
- These findings confirmed the clinical diagnosis of Darier's disease.
Implications:
- Accurate diagnosis of Darier's disease is crucial for appropriate management.
- Understanding the clinical and histological features aids in differentiating it from other dermatoses.
Related Concept Videos
01:05Desmosomes
The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
01:11Papillary Dermis
Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
01:23Skin Diseases and Disorders
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
01:25Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
01:18Other Unique Bacteria
Magnetic bacteria exhibit a directed movement called magnetotaxis, driven by structures called magnetosomes. These magnetosomes consist of chains of magnetic particles made of either magnetite (Fe₃O₄) or greigite (Fe₃S₄) and are organized in a linear conformation by a protein scaffold within invaginations of the cell membrane. The bacteria align along the north–south magnetic field lines, much like a compass needle. They are typically microaerophilic or anaerobic and are commonly found near the...
01:27Diabetic Retinopathy
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...