Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features

Sir, Dorfman–Chanarin syndrome (DCS, neutral lipid storage disease, multisystem triglyceride storage disorder) is an autosomal recessive entity in which an excess of triacylglycerol accumulates in most cells, resulting from blockage in a recycling pathway that converts triglycerides to phospholipids.1 This syndrome is characterized by the association of congenital ichthyosis with the presence of lipid droplets within leucocytes (Jordans’ anomaly). Extracutaneous manifestations in DCS2 range between no extracutaneous involvement and multisystem involvement, usually without severe consequences for life. The recent observation that a diet poor in long‐chain fatty acids and enriched with medium‐chain fatty acids improved skin and liver manifestations in a boy suffering from this syndrome3 suggested that early initiation of such a diet might prevent systemic disturbances and improve skin alterations. A 37‐year‐old Spanish woman presented with congenital ichthyosis and muscular weakness. There was no consanguinity or familial cases of ichthyosis. Examination revealed large white plate‐like scales over her entire body surface, including flexural areas (Fig. 1a). No erythema was seen. The facial skin was tense, shiny and dry, with bilateral ectropion. There was total alopecia of the scalp. The palms and soles were hyperkeratotic, and transverse leuconychia was present (Fig. 1b). Skin biopsy showed ortho‐ and para‐keratosis and a mild dermal perivascular inflammatory infiltrate. Oil‐red‐O staining demonstrated vacuoles of neutral lipids in the stratum corneum, stratum granulosum and sweat ducts. She had short stature (height 1·47 m). Liver and spleen were not enlarged. Neurological examination and psychomotor development were normal, and there were no hearing abnormalities. Ophthalmological examination revealed a total cataract of the left eye and bilateral corneal leucomas. Visual acuity was diminished in her right eye (0·4), with myopia and astigmatism. Blood count, urea, creatinine, electrolytes, glucose, hepatic enzymes, cholesterol, triglycerides, creatine phosphokinase, aldolase, antinuclear antibodies and urinalysis were normal. Urinary creatine was elevated (181 mg in 24 h). A peripheral blood smear showed two to five lipid vacuoles in most granulocytes (Fig. 1c). Abdominal ultrasound, thoracic scan and abdominal scan were normal. Consent for muscle biopsy and electromyography was not given. A diet poor in long‐chain fatty acids and enriched with medium‐chain fatty acids, and acitretin 30 mg daily, were prescribed, with improvement of skin and muscle manifestations.