|Year : 2018 | Volume
| Issue : 5 | Page : 338-340
Sjogren–larsson syndrome: A rare case report
Vrutika Shah, Kinjal Rambhia, Jayesh Mukhi, Rajesh P Singh
Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra, India
|Date of Web Publication||4-Sep-2018|
Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Shah V, Rambhia K, Mukhi J, Singh RP. Sjogren–larsson syndrome: A rare case report. Indian Dermatol Online J 2018;9:338-40
|How to cite this URL:|
Shah V, Rambhia K, Mukhi J, Singh RP. Sjogren–larsson syndrome: A rare case report. Indian Dermatol Online J [serial online] 2018 [cited 2019 Nov 14];9:338-40. Available from: http://www.idoj.in/text.asp?2018/9/5/338/240529
Sjogren–Larsson syndrome (SLS), an autosomal recessive neurocutaneous disorder, is an inborn error of lipid metabolism characterized by a triad of congenital ichthyosis, intellectual disability, and spastic diplegia or quadriplegia. We report the case of a 3-year-old female child who presented to our outpatient department with congenital ichthyosis, intellectual disability, and spastic diplegia and was diagnosed as SLS.
A 3-year-old full-term female child, born out of non consanguineous marriage, presented to the skin department with complaints of dryness of the skin since birth. Her parents complained of delay in development of milestones. History of collodion membrane was present at birth. No history of seizures was present. Clinical examination revealed generalized ichthyosis. Ichthyosis over the bilateral lower limbs was of the lamellar type [Figure 1]. Accentuated skin markings, lichenification of the flexural areas [Figure 2], and periumbilical hyperkeratosis with radiating furrows [Figure 3] were seen. The patient's nose was flattened and wide at the root and her eyes were hyperteloric. Neurological examination revealed intellectual disability, increased tone in lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia. The upper limbs did not show any tone or deep tendon reflex abnormalities. The patient was unable to speak any meaningful words. Ophthalmological examination did not reveal any abnormality. Magnetic resonance imaging (MRI) of the brain revealed bilateral symmetrical confluent T2/fluid-attenuated inversion recovery (FLAIR) hyperintensity involving bilateral periventricular parietal white matter [Figure 4]. Based on the above clinical and MRI findings, a diagnosis of SLS was made.
|Figure 1: Ichthyosis over the face and lamellar ichthyosis over the bilateral lower limbs (black arrow)|
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|Figure 2: Accentuated skin markings and lichenification of the bilateral axilla and neck|
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|Figure 3: Periumbilical hyperkeratosis with radiating furrows over the umbilicus (black arrow) and bilateral buttocks|
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|Figure 4: MRI of the brain showing bilateral symmetrical confluent T2/FLAIR hyperintensity involving the bilateral periventricular parietal white matter|
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SLS is caused by a recessive mutation of the fatty aldehyde dehydrogenase (FALDH) gene located on the short arm of chromosome 17 (17p11.2), which leads to a deficiency of the FALDH component of fatty alcohol oxidoreductase (FAO) complex. The mutation leads to the accumulation of aldehydemodified lipids or fatty alcohols which probably disrupts the barrier function of skin and white matter of the brain giving rise to symptoms seen in SLS. Evidence also shows defective leukotriene B4 (LTB4) degradation in SLS patients caused by FALDH deficiency leading to a high urinary concentration of active metabolites of LTB4, which explains the high incidence of preterm birth in SLS. The incidence of SLS is 0.4 per 100,000 population, and 200 cases have been reported worldwide till now.
The characteristic triad of SLS is present in 100% of the patients. Various other clinical features seen in SLS are: major features include glistening white dots on the retina, seizures, short stature, and speech defects; minor features include enamel hypoplasia, hypertelorism, kyphoscoliosis, macular degeneration, metaphyseal dysplasia, and wide-spaced teeth. Various patterns of ichthyosis seen in SLS patients include furfuraceous, lamellar, and nonscaly hyperkeratotic thickening of the stratum corneum. A characteristic feature seen due to non scaly hyperkeratosis is accentuation of skin markings in the flexures. A peculiar sign seen in SLS is periumbilical hyperkeratosis with radiating furrows, which was present in our patient. The face, hair, and nails are usually unaffected, however, face involvement was seen in our patient. Neurological features, which include spastic diplegia or quadriplegia, intellectual disability, and conduction aphasia, usually start between 4 and 30 months of age and are non progressive after puberty., The tell-tale sign of central nervous system involvement is the demyelination of the cerebral white matter and corticospinal and vestibulospinal tracts which causes spasticity. The pathognomic presence of glistening white dots surrounding the macular region of retina is seen in one-third of the patients and the first appears after several years of age. Other ophthalmological abnormalities include photophobia, macular dystrophy, and decreased visual acuity. MRI findings include diffuse symmetrical white matter hyperintensities on T2-weighted sequence, especially in periventricular frontal, parietal lobes, corpus callosum, and corona radiate, with sparing of subcortical white matter U fibres. Recent advances include proton MR spectroscopy which shows abnormal lipid peak at 1.3 ppm at both TE (echo time)-30 and 135 ms in the areas of T2 white matter abnormalities.
Differential diagnosis of SLS include hereditary and acquired ichthyosis, Netherton syndrome, and phytanic acid storage diseases. SLS can be confirmed by measuring FALDH enzyme activity in skin fibroblasts and leukocytes, which is a specific marker., A highly sensitive marker for SLS is sequence analysis of the FALDH3A2 gene causing the mutation which can also detect the possible carrier.
No permanent cure of SLS is available. Treatment includes multidisciplinary approach of dermatologist, neurologist, ophthalmologist, orthopedician, and physiotherapist. Treatment options to alleviate cutaneous manifestations include topical therapy, oral therapy, and dietary intervention., Topical management includes emollients, keratolytics, and calcipotriol. Oral treatment includes oral retinoids such as acitretin. Zileuton, a 5-lipoxygenase inhibitor, has been shown to decrease the pain and pruritus by inhibiting LTB4 synthesis and is currently under therapeutic trials. Dietary intervention including low-fat diet supplemented with medium-chain fatty acids is also undergoing trial.
SLS should be suspected in children with congenital ichthyosis and emerging neurological symptoms. Because of the above mentioned neurological examination findings, patients with SLS may sometimes be misdiagnosed as cerebral palsy. Hence, health care providers should be aware of the triad of SLS to avoid misdiagnosis.
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Conflicts of interest
There are no conflicts of interest.
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