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Skin Cancer

Skin 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...

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Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

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[Hereditary cutaneous leiomyomatosis].

S A Braun¹, S Hanneken, J Reifenberger

¹Hautklinik, Universitätsklinikum Düsseldorf, Düsseldorf, Deutschland.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete

|March 30, 2012

Summary

Hereditary cutaneous leiomyomatosis, a genetic disorder caused by fumarate hydratase (FH) gene mutations, presents as multiple skin tumors. Early diagnosis and interdisciplinary management are crucial for patients and families due to associated risks.

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Area of Science:

Dermatology
Oncology
Genetics

Background:

Hereditary cutaneous leiomyomatosis is an autosomal dominant disorder linked to germline mutations in the fumarate hydratase (FH) gene.
It is associated with an increased risk of uterine myomas and renal cell carcinomas, known as Multiple Cutaneous and Uterine Leiomyomas (MCUL) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).

Observation:

A 34-year-old male patient presented with multiple piloleiomyomas, characterized by red-brown papules and nodules.
Histopathologic examination confirmed the diagnosis of piloleiomyomas.

Findings:

The patient was diagnosed with hereditary cutaneous leiomyomatosis based on clinical presentation and histopathology.
This diagnosis underscores the importance of recognizing cutaneous manifestations as indicators of a broader genetic syndrome.

Implications:

Prompt diagnosis of hereditary cutaneous leiomyomatosis is essential for identifying individuals at risk for associated cancers.
Close interdisciplinary management and regular screening examinations are mandatory for affected patients and their families.
Genetic counseling and family screening are critical components of managing this hereditary condition.