Sjögren–larsson syndrome: treatment with topical calcipotriol

Sjögren‐Larsson syndrome

“…3 Seizures occur in about 40% of patients. 4 Less common features are short stature, kyphoscoliosis, nystagmus, and retinal changes, 5 consisting of perivascular glistening white dots. 6 Affected children can become wheelchair-bound, and then orthopaedic management can be essential; starting with physiotherapy and splintage, and followed by surgical procedures such as lengthening of tendons and muscle release.…”

“…It may, therefore, offer an explanation for some aspects of the pathophysiology. 24,5,16 The enzyme is necessary for the oxidation of fatty aldehyde derived from metabolism of fatty alcohol and wax esters, a pathway that is important in epidermal lipid synthesis, and its deficiency may disrupt the water barrier and cause the skin to dry. Also, it may be that the accumulation of aldehyde-modified lipids or fatty alcohol in white matter, corresponding to the lipid peaks seen on proton magnetic resonance spectroscopy, interferes with the functional integrity of myelin, thus explaining the link between the skin and brain disorder.…”

“…28,29 Treatment of skin lesions will require abundant hydration with emollient baths and keratolytic agents; and certain types of ichthyosis have been treated with significant improvement by the topical application of calcipotriol, a vitamin D analogue. 5 In view of the role of defective leukotriene B 4 metabolism in this syndrome, therapeutic trials of zileuton, a 5-lipoxygenase inhibitor, are justified, especially if pruritis is severe. 30,31,32 Also, gene therapy may be possible, as it has been shown that, using cell lines from hamsters, adeno-associated virus vectors, can target relevant tissues and are able to restore fatty aldehyde dehydrogenase deficiency.…”

Acanthosis nigricans associated with primary hypogonadism: Successful treatment with topical calcipotriol

“…Different modalities have been tested, including keratolytic agents, podophyllin, topical and oral retinoids, dermabrasion and, recently, the alexandrite laser, all with various success (3-6,10). Calcipotriol is a synthetic D vitamin analogue that has been used in various disorders of keratinization, including psoriasis, cutaneous lichen planus, morphea, pityriasis rubra pilaris, congenital ichthyosis, the Netherton syndrome, the Sjogren-Larsson syndrome and Gougerot-Carteaud syndrome, with remarkably satisfactory results (11)(12)(13)(14)(15)(16)(17) The exact mode of calcipotriol action in AN is not clear. It is believed that it inhibits keratinocyte proliferation and promotes differentiation by increasing intracellular calcium levels and cyclic GMP levels in keratinocytes (18,19).…”

SjÖgren-Larsson Syndrome

“…Topical calcipotriol (Fernandez-Vozmediano et al 2003) and more in general topical moisturizing creams and keratolytic agents are the mainstay of the therapy (Rizzo 2006, Zalewska 2006). Daily water bath help keeping the skin hydrated.…”