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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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Published on: September 20, 2018

Hereditary papulotranslucent acrokeratoderma.

Carina Rizzo¹, Jennifer Bragg, Anthony C Soldano

¹Department of Dermatology, New York University, USA.

Dermatology Online Journal

|July 17, 2008

Summary

This summary is machine-generated.

Hereditary papulotranslucent acrokeratoderma is a rare genetic skin condition causing water-induced palm and sole papules. This case highlights its familial pattern and characteristic histopathology.

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Area of Science:

Dermatology
Medical Genetics

Background:

Hereditary papulotranslucent acrokeratoderma is a rare genodermatosis.
Characterized by distinctive papules on palms and soles, often triggered by water exposure.
Presents with a familial inheritance pattern.

Observation:

A 79-year-old woman with lifelong symptoms of peeling palms and soles, worsening with water exposure.
Family history positive for similar symptoms in mother, two sisters, and a maternal cousin.
Physical exam revealed palmar scaling, hyperlinearity, and 1-2 mm translucent white papules upon water exposure.

Findings:

Histopathology demonstrated acanthotic epidermis with central depressions filled with compact orthokeratosis.
The clinical presentation and histopathological findings confirmed the diagnosis.
This condition is a rare autosomal dominant disorder.

Implications:

Understanding the genetic basis and clinical presentation of hereditary papulotranslucent acrokeratoderma is crucial for diagnosis.
Early diagnosis can help manage symptoms and provide genetic counseling.
Further research into the specific genetic mutations and treatment options is warranted.