Related Experiment Video
Updated: Aug 13, 2026
10:27
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Angiokeratoma corporis diffusum (Fabry disease)
Julie K Karen1, Elizabeth K Hale, Linglei Ma
1Department of Dermatology, New York University School of Medicine, USA.
Dermatology Online Journal
|January 13, 2006
Summary
Fabry disease, a rare genetic disorder, can manifest with skin lesions like hyperkeratotic papules. Early diagnosis and enzyme replacement therapy are crucial for managing this condition.
Area of Science:
- Dermatology
- Medical Genetics
- Lysosomal Storage Disorders
Background:
- Fabry disease is an X-linked recessive condition caused by deficient alpha-galactosidase A enzyme activity.
- This deficiency leads to the accumulation of globotriaosylceramide in various tissues.
- The disease often presents with complex and varied symptoms, necessitating a comprehensive diagnostic approach.
Observation:
- A 23-year-old male presented with a lifelong history of symmetrically distributed, red-to-purple, hyperkeratotic papules.
- Histopathology revealed ectasia of upper dermal vessels with overlying hyperkeratosis.
- Diminished serum alpha-galactosidase A levels were noted.
Findings:
- The patient's clinical presentation and biochemical findings are consistent with Fabry disease.
- Cutaneous manifestations, such as hyperkeratotic papules, can be an indicator of underlying systemic disease.
- Reduced alpha-galactosidase A activity is the hallmark biochemical defect.
Implications:
- Early identification of Fabry disease through dermatological assessment is vital.
- A multidisciplinary approach is essential for managing the systemic complications of Fabry disease.
- Enzyme replacement therapy (ERT) is a key treatment modality for patients with Fabry disease.
Related Concept Videos
01:30Skin Cancer
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
01:23Cirrhosis I: Introduction
Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
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...
01:30Peripheral Artery Disease I: Introduction
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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...