Ichthyosis congenita =السماك الخلقي |
AUTOSOMAL
RECESSIVE
CONGENITAL
ICHTHYOSIS
The term autosomal recessive congenital ichthyosis is useful to describe a heterogeneous group of disorders that present at birth with generalized involvement of the skin. ARCI can be syndromic, when accompanied by manifestations in other organ systems, or nonsyndromic. Autosomal recessive ichthyosis is rare and has been estimated to occur in about 1 in 300,000 persons. In older literature, non-bullous congenital ichthyosiform erythroderma (NCIE, lamellar ichthyosis, with autosomal recessive inheritance) was distinguished from bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis, with autosomal dominant inheritance) based on clinical appearance (bullae) and pattern of inheritance. That the term lamellar ichthyosis was used interchangeably with NCIE and included a spectrum of phenotypes has led to some confusion. Williams and Elias distinguished lamellar ichthyosis from NCIE [usually called congenital ichthyosiform erythroderma (CIE)], a milder erythrodermic form. Some patients with lamellar ichthyosis can be clearly distinguished from those with CIE on the basis of clinical features. In lamellar ichthyosis, one sees large, dark, plate-like scale, and although infants may be red at birth, adults
Most patients with lamellar ichthyosis or CIE inherit the disease in an autosomal recessive pattern. Rarely, families have been described with similar phenotypes, where the disease is inherited as an autosomal dominant trait.5 This is an important consideration for genetic counseling.
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