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Digitocutaneous dysplasia.

Arash Izadpanah¹, Marcia Hogeling, Robert L Buka

¹Division of Dermatology, University of California, San Diego, USA. arashizmd@yahoo.com

Journal of the American Academy of Dermatology

|November 14, 2006

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Digitocutaneous dysplasia, a rare X-linked dominant genetic syndrome, involves digital fibromas and bone anomalies. This report details a case in a young Mexican girl, discussing clinical, histologic, and genetic aspects.

Area of Science:

Genetics
Dermatology
Pediatrics

Background:

Digitocutaneous dysplasia is a rare X-linked dominant genetic disorder.
Characterized by digital fibromas, atrophic plaques, dental, dysmorphic, and bone anomalies.

Observation:

Presents a case study of a 2-year-old Mexican girl diagnosed with digitocutaneous dysplasia.
Details the clinical presentation, histological findings, and genetic analysis of the patient.

Findings:

Confirms the rare X-linked dominant inheritance pattern of digitocutaneous dysplasia.
Highlights the syndromic features including digital fibromas, atrophic plaques, and skeletal abnormalities.

Implications:

Contributes to the understanding of digitocutaneous dysplasia's clinical spectrum.

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Emphasizes the importance of comprehensive evaluation for rare genetic syndromes in pediatric cases.