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Lesch-Nyhan syndrome - Skin
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Lesch-Nyhan syndrome - Skin

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly MD
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Synopsis

Lesch-Nyhan syndrome, also known as juvenile gout, is a rare X-linked disorder of purine metabolism that affects multiple organ systems. The defective enzyme is hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Patients develop primary hyperuricemia from oversynthesis of uric acid. Males are more commonly affected than females.

Phenotype is largely dependent on degree of enzyme deficiency; those most affected have the classic triad of dystonia, spasticity, and self-injurious behavior. Self-mutilating behavior, particularly biting, is distinctive; fingers and lips are common targets. Renal complications develop first, within the first several months of life. Cutaneous findings can mimic gout, with painful inflammation of joints and multiple tophi. Poor muscle control and developmental delay can be noticed in the first year of life. During the second year, self-mutilating behavior including lip and finger biting can be noticed.

For more information, see OMIM.

Codes

ICD10CM:
E79.1 – Lesch-Nyhan syndrome

SNOMEDCT:
10406007 – Lesch-Nyhan syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Gout – underlying pathogenesis of gout is similar to Lesch-Nyhan, but gout will lack self-injurious behavior, dystonia, and spasticity.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 03/29/2017
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Lesch-Nyhan syndrome - Skin
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Lesch-Nyhan syndrome : Dystonia, Fingers, Hyperuricemia, Joint swelling, Lips, Self-mutilating behavior, Spasticity, Developmental delay
Clinical image of Lesch-Nyhan syndrome
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