Refsum Disease
Rare leukodystrophy characterized by neurologic findings (ataxia, peripheral neuropathy), progressive visual and hearing loss, heart arrhythmias, and generalized dark scales on skin.
What Is Refsum Disease?
Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inherited as an autosomal recessive trait.
As more information becomes available, we will provide updates.
Learn more about Refsum disease by visiting the Global DARE Foundation at this link – Defeat Adult Refsum Everywhere foundation
Longterm Course
Onset is insidious; neurologic changes progressive but vary with diet; reduced life-expectancy
Key Findings
- Neurologic
Usually precede skin findings - Skin
Generalized, flat, dark scales of varying severity and extent
Associated Findings
- Neurologic
Cerebellar ataxia, peripheral neuropathy - Eyes
Progressive visual loss - Ears
Progressive hearing loss - Heart
Arrhythmias
Clinical Resources
- Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis.
- Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
- Information about current clinical trials and research studies can be found here.
Types of Ichthyosis
- Congenital Ichthyosiform Erythroderma (CIE)
- Lamellar Ichthyosis
- Collodion Baby
- Darier Disease
- Epidermal Nevus
- Epidermolytic Ichthyosis
- Erythrokeratodermia Variabilis
- Erythrokeratodermia Cardiomyopathy Syndrome
- Harlequin Ichthyosis
- Ichthyosis Vulgaris
- Ichthyosis with Confetti
- Keratitis-Ichthyosis-Deafness (KID)
- Netherton Syndrome
- Pachyonychia Congenita
- Palmoplantar Keratodermas
- Sjögren-Larsson Syndrome
- X-Linked Ichthyosis
- Chanarin Dorfman Syndrome
- CHILD Syndrome
- Conradi-Hünermann
- Ichthyosis Hystrix with Deafness (HID) Syndrome
- Ichthyosis Hystrix Curth-Macklin
- Refsum Disease
- Trichothiodystrophy
Phenotype Names
Refsum disease, heredopathia atactica polyneuritoformis; phytanic acid storage disease
EDD Name
KRT6C-pEDD
OMIM
Inheritance
Autosomal recessive
Incidence
Very rare
Diagnostic Tests
Biochemical measurements on blood or skin cells; analysis of cellular DNA
Age of First Appearance
Neurologic findings usually detected during the first or second decade; skin findings usually later
Abnormal Genes
phytanyl CoA hydroxylase
Primary Symptom Photos
