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Grouped papules in Hurler-Scheie syndrome
J A Schiro1, S B Mallory, L Demmer
1Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri, USA.
Journal of the American Academy of Dermatology
|November 1, 1996
Summary
Grouped papules on the skin were observed in a patient with Hurler-Scheie syndrome, a rare mucopolysaccharidosis. This skin finding is a novel presentation for this genetic disorder.
Area of Science:
- Genetics
- Dermatology
- Biochemistry
Background:
- Hurler-Scheie syndrome (Mucopolysaccharidosis I H/S) is a rare genetic disorder.
- It results from deficient alpha-L-induronidase enzyme activity.
- Characterized by progressive symptoms affecting multiple organ systems.
Observation:
- A patient presented with grouped papules on the extensor surfaces of the upper arms and legs.
- Additional findings included progressive flexion contractures and mild developmental delay.
- Electron microscopy revealed characteristic large cytoplasmic vacuoles and lysosomes.
Findings:
- The patient exhibited deficient alpha-L-induronidase activity, confirming Hurler-Scheie syndrome.
- The presence of grouped papules represents a previously unreported cutaneous manifestation of this syndrome.
- This finding expands the known clinical spectrum of Mucopolysaccharidosis I H/S.
Implications:
- Highlights the importance of recognizing diverse dermatological presentations in genetic disorders.
- Suggests potential for novel diagnostic markers or therapeutic targets related to skin manifestations.
- Contributes to a more comprehensive understanding of Hurler-Scheie syndrome's clinical variability.