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Chanarin-Dorfman syndrome is also known as neutral lipid storage disease with ichthyosis. Clinically, it is an autosomal recessive form of non-bullous congenital ichthyosiform eryhthroderma (NCIE), demonstrating fine white scaling on an erythematous background. Babies with Chanarin-Dorfman may be born with a collodion membrane, and cases have been reported with bilateral ectropion and eclabion. Hair, nails, teeth, and mucosa are normal. In addition to NCIE, however, affected individuals have other organ involvement, the most frequent of which is hepatomegaly and liver steatosis. Muscle weakness, ataxia, neurosensory hearing loss, eye findings (subcapsular cataracts, nystagmus and strabismus), and mental retardation may also be present. Histologically, intracellular lipid droplets are found in most tissues and confirmation of the diagnosis can be made on a peripheral blood smear to evaluate the presence of these lipid vacuoles in granulocytes.
Identification of the specific molecular basis of congential ichthyosis or related skin disorders
Genetic counseling and recurrence risk assessment
Option for prenatal testing in future pregnancies
As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.
Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\"