Galli–Galli disease

Autosomal dominant - en

Galli–Galli disease is a rare genetic skin disorder characterized by a distinctive pattern of skin lesions and hyperpigmentation. It is considered a variant of Dowling–Degos disease, which is also a genetic condition affecting the skin.

Presentation

Galli–Galli disease typically presents with reticulated hyperpigmentation primarily affecting the flexural areas of the body, such as the armpits, groin, and neck. The condition is often associated with pruritus (itching) and may also involve the development of small, darkly pigmented papules.

Pathophysiology

The underlying cause of Galli–Galli disease is a mutation in the KRT5 gene, which encodes the protein keratin 5. This protein is essential for the structural integrity of the epidermis. The mutation leads to abnormalities in the keratinocytes, resulting in the characteristic skin changes seen in the disease.

Diagnosis

Diagnosis of Galli–Galli disease is primarily clinical, based on the appearance of the skin lesions and their distribution. A skin biopsy may be performed to confirm the diagnosis, revealing characteristic findings such as acantholysis and dyskeratosis. Genetic testing can identify mutations in the KRT5 gene, supporting the diagnosis.

Treatment

There is no cure for Galli–Galli disease, and treatment is primarily symptomatic. Topical treatments, such as retinoids and corticosteroids, may help to reduce the appearance of lesions and alleviate itching. In some cases, laser therapy may be used to improve the cosmetic appearance of the skin.

Prognosis

The prognosis for individuals with Galli–Galli disease is generally good, as the condition is primarily cosmetic and does not typically affect overall health. However, the chronic nature of the disease and the potential for significant cosmetic disfigurement can impact the quality of life.

See also

• Dowling–Degos disease
• Hyperpigmentation
• Keratin 5
• Acantholysis
• Dyskeratosis

External links

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