Warburg–Thomsen syndrome

Warburg–Thomsen syndrome
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Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Thin, fragile skin, easy bruising
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Warburg–Thomsen syndrome is a rare genetic disorder characterized by skin abnormalities, primarily presenting as thin, fragile skin that bruises easily. This condition is a form of Ehlers-Danlos syndrome, specifically classified under the classic type.

Presentation

Individuals with Warburg–Thomsen syndrome typically exhibit symptoms from childhood. The hallmark features include:

• Thin, fragile skin that is prone to bruising and tearing.
• Hyperextensible skin, which can be stretched beyond normal limits.
• Joint hypermobility, although this is less pronounced than in other forms of Ehlers-Danlos syndrome.
• Scarring, which may be atrophic and resemble cigarette paper.

Genetics

Warburg–Thomsen syndrome is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific genetic mutation responsible for this syndrome has been identified in the COL5A1 or COL5A2 genes, which encode type V collagen, a crucial component of connective tissue.

Diagnosis

Diagnosis of Warburg–Thomsen syndrome is primarily clinical, based on the characteristic skin findings and family history. Genetic testing can confirm the diagnosis by identifying mutations in the COL5A1 or COL5A2 genes. Differential diagnosis includes other forms of Ehlers-Danlos syndrome and other connective tissue disorders.

Management

There is no cure for Warburg–Thomsen syndrome, and treatment is focused on managing symptoms and preventing complications. Recommendations include:

• Protective measures to prevent skin injury.
• Physical therapy to maintain joint function and prevent dislocations.
• Regular monitoring for potential complications, such as hernias or cardiovascular issues.

Prognosis

The prognosis for individuals with Warburg–Thomsen syndrome varies. While the condition is lifelong, many individuals can lead relatively normal lives with appropriate management and precautions.

Also see

• Ehlers-Danlos syndrome
• Connective tissue disease
• Genetic disorder