Lutz-Lewandowsky epidermodysplasia verruciformis

Lutz-Lewandowsky Epidermodysplasia Verruciformis

Lutz-Lewandowsky Epidermodysplasia Verruciformis (EV) is a rare, lifelong, autosomal recessive genetic disorder characterized by chronic infection with human papillomavirus (HPV) and the development of scaly macules and papules, particularly on the hands and feet. This condition is also known as "tree man syndrome" due to the tree bark-like appearance of the skin lesions.

History

The condition was first described by the physicians Felix Lewandowsky and Wilhelm Lutz in 1922. They reported a case of a patient with widespread wart-like lesions that were resistant to treatment, which they attributed to a genetic predisposition to HPV infection.

Etiology

Epidermodysplasia verruciformis is caused by mutations in the EVER1 or EVER2 genes, which are located on chromosome 17. These genes are involved in the regulation of zinc homeostasis in keratinocytes, and their mutation leads to an increased susceptibility to certain types of HPV, particularly HPV types 5 and 8.

Clinical Presentation

Patients with EV typically present with:

• Flat, wart-like lesions that may be hypopigmented or hyperpigmented.
• Lesions that are often distributed symmetrically on the face, neck, and extremities.
• Development of cutaneous squamous cell carcinomas, particularly in sun-exposed areas, due to the oncogenic potential of HPV.

Diagnosis

Diagnosis of EV is primarily clinical, supported by:

• Histopathological examination of skin lesions showing characteristic features.
• Detection of HPV DNA in lesions using polymerase chain reaction (PCR).
• Genetic testing for mutations in the EVER genes.

Management

There is no cure for EV, and management focuses on:

• Regular monitoring for skin cancer development.
• Surgical removal of malignant lesions.
• Use of topical or systemic retinoids to reduce the number of lesions.
• Experimental treatments, such as imiquimod or interferon therapy, have been tried with variable success.

Prognosis

The prognosis for patients with EV varies. While the skin lesions themselves are benign, the risk of developing skin cancer is significantly increased, necessitating lifelong surveillance and management.

Research Directions

Ongoing research is focused on understanding the molecular mechanisms of EV and developing targeted therapies to prevent HPV-induced carcinogenesis.

Also see

• Human papillomavirus
• Squamous cell carcinoma
• Genetic disorders
• Dermatology

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