Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers

The study will consist of a clinical component and a scientific component consisting of
laboratory investigations of potentially useful biochemical (lipid and protein) markers. Up
to 50 SLS patients of all ages, gender and ethnic origins will be enrolled. A detailed
clinical evaluation will be performed to determine the presence and extent of disease
involving the skin, nervous system and eyes. Clinical testing will include brain magnetic
resonance imaging (MRI) and spectroscopy (MRS), electroencephalography (EEG), neurocognitive
tests, ophthalmologic examination with retinal photographs and optical coherence tomography
(OCT), photographs of the skin and tests of cutaneous transepidermal water loss. Laboratory
investigations will include lipid analyses (e.g. fatty alcohols, farnesol, fatty acids, ether
glycerolipids, etc.) of blood, skin and urine; proteomic analysis of skin (stratum corneum);
and measurements of leukocyte fatty alcohol and farnesol oxidation. A skin biopsy (optional)
will be obtained for electron microscopy, measurement of lanthanum perfusion (transepidermal
water loss), and/or establishing keratinocyte cultures. Correlations between clinical
abnormalities and laboratory measurements will be tested to identify the most useful
biomarkers for future diagnostic and therapeutic studies. To characterize the progression of
phenotypic features over time, patients <6 years of age will be followed yearly and patients
≥6 years of age will be followed every 3 years. In addition, a SLS patient registry will be
established as a resource for future investigations in SLS.

Inclusion Criteria:

- The only eligibility criterion is that subjects have a genetically or biochemically
confirmed diagnosis of Sjogren-Larsson syndrome.

Exclusion Criteria:

- The primary exclusion criteria are the patients' failure to consent or inability to
travel to a STAIR site.