Diagnosing Sjögren-Larsson syndrome in a 7-year-old Moroccan boy.
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder characterized by the triad of congenital ichthyosis, mental deficiency, and spastic diplegia or tetraplegia. Less common features are retinal changes, short stature, kyphoscoliosis, preterm birth, photophobia, reduction of visual acuity, seizures, and delayed speech. SLS is characterized by a genetic block in the oxidation of fatty alcohol to fatty acid because of deficient activity of fatty aldehyde dehydrogenase (FALDH), a component of the fatty alcohol: NAD oxidoreductase enzyme complex. As in other rare multisystem diseases, the diagnosis of SLS is often delayed. The definitive test for SLS is considered the measurement of FALDH or fatty alcohol: NAD oxidoreductase in cultured skin fibroblasts. Nevertheless, if specific FALDH activity test or DNA FALDH gene mutation tests are not available (as in our country), a reliable diagnosis of SLS is also possible when it is based on the matching of peculiar clinical, histologic and ultrastructural, laboratoristic, and imaging features. The simultaneous presence of cutaneous histologic features including hyperkeratosis, orthokeratosis, thickening of granular layer, abnormal lamellar inclusions in the cytoplasm of granular and horny cells (demonstrated by light and electron microscopy) in a child with ichthyosis, and typical neurologic abnormalities is highly suggestive of SLS. We describe the case of a young Moroccan boy presenting with ichthyosis, mental retardation, spastic diplegia, and peculiar skin histologic findings.
Bernardini
M L
ML
Clinica Dermatologica, Ospedali Riuniti, Ancona, Italy. mbernardini@email.it
Cangiotti
A M
AM
Zamponi
N
N
Porfiri
L
L
Cinti
S
S
Offidani
A
A
D000445:Aldehyde Oxidoreductases / Q000172:deficiency / Q000235:genetics; D002648:Child; D003241:Consanguinity; D003593:Cytoplasm / Q000648:ultrastructure; D006801:Humans; D015603:Keratinocytes / Q000648:ultrastructure; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000201:enzymology; D012867:Skin / Q000473:pathology*
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase