Hereditary sclerosing poikiloderma

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Hereditary sclerosing poikiloderma
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Synonyms
Pronounce
Specialty Dermatology
Symptoms Poikiloderma, sclerosis, skin atrophy, telangiectasia, hyperpigmentation
Complications Increased risk of skin cancer
Onset Childhood
Duration Lifelong
Types
Causes Genetic mutation
Risks Family history
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis Other forms of poikiloderma, scleroderma
Prevention
Treatment Sun protection, topical corticosteroids, laser therapy
Medication
Prognosis Variable, depends on severity
Frequency Rare
Deaths N/A


Hereditary sclerosing poikiloderma, also known as Ferguson-Smith disease, is a rare genetic disorder characterized by a combination of poikiloderma, scleroderma, and telangiectasia.

Signs and symptoms

Individuals with hereditary sclerosing poikiloderma typically present with skin changes such as poikiloderma, which refers to a combination of skin atrophy, telangiectasia, and pigmentary changes. Scleroderma, characterized by hardening and tightening of the skin, may also be present. Telangiectasia, or small dilated blood vessels near the surface of the skin, is another common feature of this condition.

Causes

Hereditary sclerosing poikiloderma is caused by a genetic mutation that affects the skin's ability to regenerate and repair itself properly.

Diagnosis

Diagnosis of hereditary sclerosing poikiloderma is typically based on clinical evaluation of the characteristic skin changes and may be confirmed through genetic testing.

Treatment

There is currently no specific treatment for hereditary sclerosing poikiloderma. Management typically involves symptomatic relief and supportive care to address the skin manifestations and associated symptoms.

Prognosis

The prognosis for individuals with hereditary sclerosing poikiloderma varies depending on the severity of symptoms and complications. Regular monitoring and management by a dermatologist or geneticist may help improve quality of life for affected individuals.

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Contributors: Prab R. Tumpati, MD