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[Pringle's disease with skeletal changes]

N Schöner, R Kloss, H Ellegast

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete

|June 1, 1980

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This case report details a woman with Pringle's disease, characterized by adenoma sebaceum, fibromas, and skeletal lesions. Her children also exhibit cutaneous and skeletal manifestations, suggesting a genetic component.

Area of Science:

Dermatology
Genetics
Oncology

Background:

Pringle's disease, also known as neurofibromatosis type 1 (NF1), is a genetic disorder.
It is characterized by the development of tumors in the nervous system and skin.
Skeletal abnormalities are also common in NF1.

Observation:

A 45-year-old woman presented with adenoma sebaceum, gingival and digital fibromas, and characteristic skeletal lesions.
Three of her five children displayed cutaneous lesions.
One child also exhibited skeletal lesions.

Findings:

The patient's presentation aligns with Pringle's disease (NF1).
The familial occurrence of cutaneous and skeletal lesions suggests a hereditary pattern.
This case highlights the varied clinical manifestations of NF1 within a family.

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Implications:

Early diagnosis and genetic counseling are crucial for families with a history of Pringle's disease.
Understanding the spectrum of NF1 manifestations aids in patient management.
Further research into the genetic basis of NF1 can lead to targeted therapies.