Inherited patterned lentiginosis

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Inherited patterned lentiginosis
Synonyms LEOPARD syndrome, lentiginosis profusa
Pronounce N/A
Specialty N/A
Symptoms Multiple lentigines, café-au-lait spots, cardiac abnormalities
Complications Hypertrophic cardiomyopathy, sensorineural hearing loss
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Clinical examination, genetic testing
Differential diagnosis Peutz-Jeghers syndrome, Carney complex
Prevention Genetic counseling
Treatment Symptomatic treatment, regular monitoring
Medication N/A
Prognosis Variable, depends on associated conditions
Frequency Rare
Deaths N/A


Inherited Patterned Lentiginosis is a rare genetic condition characterized by the presence of numerous lentigines (small, pigmented spots on the skin) that are arranged in a specific pattern. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to each of their offspring.

Symptoms

The primary symptom of Inherited Patterned Lentiginosis is the presence of numerous lentigines. These lentigines are typically small, pigmented spots on the skin that are arranged in a specific pattern. The pattern of lentigines can vary widely from person to person, but they are typically found on the trunk and extremities. The lentigines are usually present at birth or develop in early childhood.

Causes

Inherited Patterned Lentiginosis is caused by mutations in a gene. The exact gene responsible for this condition has not yet been identified. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to each of their offspring.

Diagnosis

The diagnosis of Inherited Patterned Lentiginosis is typically made based on the presence of characteristic clinical features. Genetic testing can be used to confirm the diagnosis and identify the specific gene mutation responsible for the condition.

Treatment

There is currently no cure for Inherited Patterned Lentiginosis. Treatment is typically focused on managing the symptoms of the condition. This can include the use of topical creams to lighten the lentigines, as well as laser treatments or surgery to remove them.

See Also

References

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