Ferguson-Smith tumor

Ferguson-Smith Tumor Description

The Ferguson-Smith tumor, also known as Multiple Self-Healing Squamous Epithelioma (MSSE), is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors. These tumors typically resemble keratoacanthomas and usually heal spontaneously after several months, leaving pitted scars.

Key Characteristics:

• Multiple lesions: MSSE is characterized by the presence of multiple skin tumors that develop at various sites on the body.
• Keratoacanthoma-like appearance: The tumors resemble keratoacanthomas, which are a type of skin cancer that typically presents as small, dome-shaped growths with a central crust.
• Spontaneous healing: The lesions usually heal spontaneously after several months, but often leave behind pitted scars.
• Rapid growth: The tumors grow rapidly over weeks, followed by a period of slow growth or stabilization.

Additional Information:

• MSSE is an autosomal dominant inherited disease, meaning that it can be passed down from parents to offspring.
• The syndrome has been described almost exclusively in families of Scottish origin.
• Mutations in the TGFBR1 gene have been identified as the cause of MSSE.

References:

• [1] Ferguson-Smith disease should be considered in patients presenting with multiple SCC/KA-like lesions at a young age with a positive family history. In areas of high ultraviolet (UV) exposure and skin cancer prevalence, the diagnosis of MSSE may be delayed or easily missed.
• [2-14] Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.

Ferguson-Smith disease, also known as Multiple Self-Healing Squamous Epithelioma (MSSE), presents with a unique set of signs and symptoms.

Key Features:

• Multiple skin tumors: Patients develop multiple locally invasive skin tumors resembling keratoacanthomas or well-differentiated squamous cell carcinomas.
• Rapid growth: These tumors grow rapidly, often within a short period (weeks to months).
• Spontaneous resolution: Despite being cancerous, the tumors usually heal spontaneously after several months, leaving pitted scars.

Clinical Presentation:

• The skin lesions typically start as an acne-like lesion or a reddish macule.
• They progress to a papule and later a nodule with a central crateriform ulcer and rolled edges.
• These lesions can occur on the face, limbs, or other areas of the body.

Other Symptoms:

• Recurrent skin lesions are common in affected patients.
• The tumors may cause local destruction and scarring.

It's essential to note that Ferguson-Smith disease is a rare inherited condition, and its diagnosis can be challenging due to its similarities with cutaneous squamous cell carcinoma (cSCC). A positive family history and multiple SCC/KA-like lesions at a young age should raise suspicion for this condition.

Ferguson-Smith disease, also known as multiple self-healing squamous epithelioma (MSSE), is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs.

Diagnostic tests for Ferguson-Smith disease:

• Clinical examination: The diagnosis can be made based on clinical aspect and distribution of the lesions, histopathological features, age at the onset of the disease, and self-healing course of the cutaneous tumors [8][10].
• Histopathological examination: The skin tumors resembling keratoacanthomas should be examined under a microscope to confirm the diagnosis. However, it can be challenging to distinguish Ferguson-Smith disease from cutaneous squamous cell carcinoma based solely on histopathology [7].
• Genetic testing: Genetic tests for mutations in the TGFBR1 gene can further confirm the diagnosis of Ferguson-Smith disease [6][9].

Key diagnostic features:

• Multiple skin tumors resembling keratoacanthomas
• Self-healing course of the cutaneous tumors
• High number of lesions (average 20.5 per patient) [7]
• Positive family history

It's essential to consider Ferguson-Smith disease in patients presenting with multiple SCC/KA-like lesions at a young age, especially if there is a positive family history [2].