Lesch–Nyhan syndrome

Author: Brian Wu, MD candidate, Keck School of Medicine, Los Angeles, USA. DermNet New Zealand Editor in Chief: Adjunct A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. Copy editor: Maria McGivern. July 2017.

What is Lesch–Nyhan syndrome?

Lesch–Nyhan syndrome is a rare inherited disorder in which there are high levels of uric acid. It presents with a wide range of neurological, renal, musculoskeletal and behavioural issues, the most common of which is self-mutilation (in 85% of affected children).

Lesch–Nyhan syndrome was first described by Doctors Michael Lesch and William Nyhan in 1964. This syndrome is also known by a number of other names including Lesch–Nyhan disease, Nyhan syndrome, juvenile gout, hypoxanthine guanine phosphoribosyl transferase (HGPRT or HPRT) deficiency, X-linked hyperuricaemia, and choreoathetosis self-mutilation syndrome.

Who gets Lesch–Nyhan syndrome?

Lesch–Nyhan syndrome is rare, occurring in 1 out of every 100,000 to 380,000 live births. It presents almost exclusively in males whose mothers were carriers for mutations in the HPRT-1 gene (the Lesch–Nyhan gene), with female presentations being very rare. A mother with this gene has a 25% chance of producing a son who suffers from this disorder.

What causes Lesch–Nyhan syndrome?

Lesch–Nyhan syndrome is an X chromosome-linked recessive genetic disorder due to a lack or near-lack of the HGPRT enzyme. This enzyme is needed to break down purines, which are found in foods like meats and legumes. Purines are colourless crystalline compounds with basic properties that form uric acid on oxidation; they include the bases adenine and guanine, constituents of nucleic acids, as well as many alkaloids such as caffeine and theophylline. The accumulation of purines leads to a build-up of uric acid and affects multiple organs.

What are the clinical features of Lesch–Nyhan syndrome?

Lesch–Nyhan syndrome is characterised by:

Cutaneous findings in Lesch–Nyan syndrome

The biting of fingers and lips, scratching of the face and gouging of the eyes result in:

Gouty tophi (nodular masses of monosodium urate crystals that develop and appear as firm lumps under the skin) form on the ears and over the joints of the fingers and toes.

How is Lesch–Nyhan syndrome diagnosed?

The diagnosis of Lesch–Nyhan syndrome is based on a careful patient history, physical examination findings, and blood tests to detect high levels of uric acid. Where available, genetic testing confirms the presence of an abnormal HPRT-1 gene.

What are the differential diagnoses for Lesch–Nyhan syndrome?

The differential diagnosis for Lesch–Nyhan syndrome includes:

What is the treatment for Lesch–Nyhan syndrome?

The treatment for Lesch–Nyhan syndrome depends on the individual patient’s symptoms, but may include:

No methods, to date, have been consistently found to reduce the self-mutilating behaviour. Psychotherapy, restraints, a mouth/dental guard and dental extraction have been used.

What is the outcome for Lesch–Nyhan syndrome?

Death from Lesch–Nyhan syndrome usually occurs in the second or third decade of life due to infection or renal failure.

Related information

Email Newsletter

Would you like to receive our dermatology updates by email?

SIGN UP

Submit your images

We're seeking high-quality photos of skin diseases.  

SUBMIT A PHOTO

Machine diagnosis

Watch DermNet's proposal to create a 'Skin Disease Image Recognition Tool' - winner of the 2017 'Clinicians' Challenge Active Award' by the NZ Ministry of Health and HiNZ.

Subscribe to our mailing list

* indicates required
DermNet NZ Newsletter