Sjogren-Larsson syndrome

(redirected from ichthyosiform erythroderma)

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjögren-Larsson syndrome

[shō′gren lär′sən]
Etymology: Torsten Sjögren, Swedish pediatrician, 1859-1939; T. Larsson, twentieth-century Swedish pediatrician
a congenital condition inherited as an autosomal-recessive trait, characterized by ichthyosis, mental deficiency, and spastic paralysis.

Sjögren-Larsson syndrome

An autosomal recessive condition (OMIM:270200) characterised by ichthyosiform erythroderma, spastic paralysis, mental retardation, retinal degeneration, sparse and brittle hair, enamel hypoplasia, short stature, ocular hypertelorism and metaphyseal dysplasia.

Molecular pathology
Various mutations of ALDH2A2 on chromosome 17p11.2, which encodes fatty aldehyde dehydrogenase.

Larsson,

Tage Konrad Leopold, Swedish scientist, 1905–.
Sjögren-Larsson syndrome - see under Sjögren, Karl Gustaf Torsten

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939.
Marinesco-Sjögren-Garland syndrome - see under Marinesco
Marinesco-Sjögren syndrome - see under Marinesco
Sjögren syndrome - Synonym(s): Marinesco-Sjögren syndrome
Sjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.
Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndrome
Torsten syndrome - Synonym(s): Marinesco-Sjögren syndrome
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References in periodicals archive ?
The 3 major types of autosomal recessive congenital ichthyosis are Harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma.
In 1902, Brocq5described ichthyosis hystrix as an atypical form of congenital bullous ichthyosiform erythroderma.
It may result from a pre-existing dermatoses or underlying lymphoma, drug eruptions, hereditary causes eg: ichthyosiform erythroderma.
The condition has to be differentiated from non-bullous ichthyosiform erythroderma, X-linked ichthyosis, Chanarin-Dorfman syndrome and Trichothiodystrophy.
Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic.
CHILD Sendromu (Congenital Hemidysplasia Ichthyosiform Erythroderma Limb Defects)
She was diagnosed as having congenital ichthyosiform erythroderma, a condition that affects just one in 300,000 children.
Hypnosis has been found useful to treat a number of skin disorders including acne excoriee, alopecia areata, atopic dermatitis, congenital ichthyosiform erythroderma, dyshidrotic dermatitis, erythromelalgia, furuncles, glossodynia, herpes simplex, hyperhidrosis, ichthyosis vulgaris, lichen planus, neurodermatitis, nummular dermatitis, postherpetic neuralgia, pruritus, psoriasis, rosacea, trichotillomania, urticaria, verruca vulgaris, and vitiligo.
Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation.
Friedman S, Lindane neurotoxic reaction in nonbullous congenital ichthyosiform erythroderma.
Friedman[7] reported a case of a boy aged 3 years 9 months who had congenital ichthyosiform erythroderma but no history of seizures.
NASDAQ:CLGY; Warrants:CLGYW), with headquarters in Foster City, Thursday said it had received from the Food and Drug Administration (FDA) a $400,000 Orphan Drug grant for its Phase III study to evaluate the safety and efficacy of the topical drug Glylorin for the treatment of congenital ichthyosiform erythroderma, a disfiguring skin disease.