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Cutaneous manifestations of Prader-Willi syndrome

Eduardo Bornhausen-Demarch1, Lívia Célem, Ronita Carvalhal

  • 1Professor Rubem David Azulay Institute of Dermatology, Santa Casa da Misericórdia General Hospital, Rio de Janeiro, RJ, Brazil.

Cutis
|October 26, 2012
PubMed

Insights

Prader-Willi syndrome (PWS) is a rare genetic disorder causing developmental, behavioral, and physical issues. This case study details the characteristic facial features, short stature, obesity, and skin findings in an adult woman with PWS.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder impacting multiple body systems.
  • It is characterized by distinct physical, intellectual, and behavioral abnormalities.

Observation:

  • The case involves a 27-year-old woman diagnosed with Prader-Willi syndrome.
  • Detailed clinical presentation including dysmorphic facial features (almond-shaped eyes, narrow bifrontal diameter, thin upper lip), short stature, central obesity, and small extremities was noted.

Findings:

  • The study highlights the typical phenotypic manifestations of PWS in an adult.
  • Cutaneous manifestations associated with PWS were also described in this case.

Implications:

  • Understanding the diverse clinical spectrum of PWS is crucial for accurate diagnosis and management.
  • This case contributes to the literature on adult PWS, emphasizing the importance of recognizing its features throughout the lifespan.

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