Chanarin Dorfman syndrome


Goens JL, Janniger CK, De Wolf K (1994) Dermatologie and systemic manifestations of syphilis. American Family Physician 50(5)11013-1020


Chanarin Dorfman disease; Dorfman Cha-narin syndrome; ichthyosiform erythro-derma with vacuolation; ichthyotic neutral lipid storage disease; neutral lipid storage disease; triglyceride storage disease


Hereditary disorder of lipid metabolism, characterized by ichthyosis, myopathy, and abnormal white blood cells with vacuoles filled with lipids


Precise defect unknown; autosomal recessive trait; inability to break down intracellu-lar triglycerides

Clinical manifestation

Moderate, generalized erythema and scale; myopathy; psychomotor delay; cataracts; decreased hearing

Differential diagnosis

Congenital ichthyosiform erythroderma; Refsum's disease


Alpha hydroxy acids References

Wessalowski R, Schroten H, Neuen-Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit T (1994) Multisystem triglyceride storage disorder without ichthyosis in two siblings. Acta Paediatrica 83(i):93-98

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