DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...

BACKGROUND Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. OBSERVATIONS We report genotypi...

We report spontaneous corneal perforation in a patient with lamellar ichthyosis. The patient presented with complaints of pain, redness, diminished vision, and discharge in her right eye for 15 days. Visual acuities were light perception in the right and 20/400 in the left eye. Cicatricial ectropion in both lower eyelids and 2 mm perforation site in the center of the right cornea were observed....

it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.

Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which ca...

Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens. Recent studies have confirmed that ichthyosis bullosa of Siemens is caused by the mutation ...

lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. to date, seven causative genes for arci have been identified. to understand further the genetic spectrum of the disease, we analyzed a four-generation iranian family with arci that had observable inheritance. exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous iranian family...

We assessed the clinical efficacy, tolerability and safety of acitretin in a patient with ichthyosis. A newborn infant with ichthyosis who presented at birth with collodion baby appearance, was treated with acitretin. A moderate response to acitretin therapy (1 mg/kg/day) administered for 6 months was observed, with improvement in cutaneous lesions. Clinical improvement was achieved shortly aft...

Ichthyosis is a heterogeneous group of keratinization disorders reported both in human and animals. Two rare, inherited forms have been reported in cattle, both characterized by autosomal recessive transmission. Because mutations of transglutaminase 1 (TGM1) gene are associated with autosomal recessive ichthyosis in people, this gene was investigated as a candidate for the diseases in cattle. T...