What Syndrome Is This?

Abstract

Sjögren-Larsson syndrome is an inborn error of metabolism with its primary clinical manifestations being congenital ichthyosis, spastic hemiplegia or quadriplegia, and moderate to severe mental retardation. Definitive diagnosis can be made by measuring fatty aldehyde dehydrogenase activity in cultured skin fibroblasts. Treatment of dermatologic manifestations is best accomplished with topical emollients and frequent bathing or showering. Some evidence supports medium-chain triglyceride diets and oral retinoids. These modalities, however, remain controversial.

Altered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome

“…Focal accumulations of eosinophilic, periodic acid-Schiff-positive, diastase-resistant homogeneous material (Figure 2, B) occurred within the parakeratotic SC and focally within the stratum granulosum (SG) in only 1 patient (1). 5,16,[25][26][27][28][29] Finally, the papillary dermis showed a mild-to-marked perivascular inflammatory infiltrate consisting of histiocytes, lymphocytes, and some granulocytes, with regions of exocytosis.…”

“…5,6 Although some authors 5,14 suggest that systemic complications of NS could be due to a severe, underlying immunodeficiency, recent studies 6 demonstrate that, apart from markers of atopy such as increased IgE, significant immune defects are not present. Others 5,[15][16][17] have proposed that increased rates of transcutaneous water loss, resulting in hypernatremic dehydration and hypothermia in the neonatal period, are a more likely cause of morbidity and mortality in NS. Such a pathogenic scenario implies that a severe disturbance in the cutaneous permeability barrier is an important feature of this subgroup of NS.…”

Fundus autofluorescence changes in two cases of Sjögren-Larsson syndrome

“…Most patients present at birth with a generalized ichthyosis that usually progresses within the first year of life [2,5].…”

“…Other features are superficial punctate epithelial erosions of the cornea, glistening dots in the macula, blepharitis, conjunctivitis, short stature, seizure disorders, and vertebral and dental abnormalities [2].…”

“…It is characterized by the triad of congenital ichthyosis, spastic diplegia or tetraplegia, and various degrees of mental retardation [1][2][3][4][5][6][7].…”