Lamellar ichthyosis is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. It is caused by mutations in the TGM1 gene that encodes the transglutaminase 1 (TGase 1) enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGase 1 is a complex enzyme existing as both cytosolic and membrane-boun...

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can ...

In this paper we deal on the ultraviolet color (invisible to us): where we can find it, the capability of animals to see it and the advantages that this color perception offers to them. As the simplest way to detect it is the photography, we describe and review how to photograph the UV, as a result of 15 years of amateur experience, searching and testing nearly in complete blindness due to the ...

Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is ...

Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualiz...

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mut...

PURPOSE To report the clinical, confocal scan, and histopathologic features of nocardia keratitis in a patient who developed bilateral infection following photorefractive keratectomy (PRK). CASE REPORT A 23-year-old woman underwent bilateral PRK for low myopia. On postoperative day 3, dense central stromal infiltrates were noticed in both eyes. Empirical antibiotic therapy was initiated which...

The child was observed to have normal growth and development in all spheres till 3 years of age. The girl weighs 10 kg with a height of 91 cm. Vision and hearing are normal. Skin continues to have lamellar ichthyosis that worsens during winters. Liver span increased (reaching upto 18 cm) over the first year of life, stabilised for 6 months thereafter; followed by a decreasing trend. The liver s...

The microstructural evolution of Fe–0.2C–5Mn steel during intercritical annealing with holding time for up to 144 hours was examined by TEM and STEM. It was demonstrated by TEM that the martensite lath structure gradually transformed into a lamellar ferrite and austenite duplex structure. The partitioning of manganese from ferrite to austenite was found by STEM. Typical Kurdjumov-Sachs orientat...

INTRODUCTION Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated succes...