醫學四：80題 ( 包括小兒科,皮膚科,神經科,精神科等科目及其相關臨床實例與醫學倫理 )題庫下載題庫

Epidermolytic ichthyosis — Epidermolytic ichthyosis, also called epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma (MIM #113800), is an autosomal dominant disorder of keratinization caused by mutations in the keratin 1 or 10 genes (KRT1 and KRT10). Epidermolytic ichthyosis is characterized by marked skin fragility with blistering and erythroderma at birth. Because of blistering and widespread erosions, epidermolytic ichthyosis can initially be mistaken for epidermolysis bullosa

Epidermolytic ichthyosis — Epidermolytic ichthyosis, also called epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma (MIM #113800), is an autosomal dominant disorder of keratinization caused by mutations in the keratin 1 or 10 genes (KRT1 and KRT10). Epidermolytic ichthyosis is characterized by marked skin fragility with blistering and erythroderma at birth. Because of blistering and widespread erosions, epidermolytic ichthyosis can initially be mistaken for epidermolysis bullosa

Netherton syndrome is characterized by scaly skin, abnormal hair, and increased risk of atopy. Scale can assume a characteristic pattern called ichthyosis linearis circumflexa, which manifests as migratory, erythematous plaques with double-edged scale at the periphery. Examination of the hair frequently reveals trichorrhexis invaginata, which is visible using light microscopy as a bamboo-like configuration in which the distal hair shaft invaginates into the proximal one. Patients experience manifestations of the atopic triad including atopic dermatitis, food allergy, and asthma and often have ...

Netherton syndrome is characterized by scaly skin, abnormal hair, and increased risk of atopy. Scale can assume a characteristic pattern called ichthyosis linearis circumflexa, which manifests as migratory, erythematous plaques with double-edged scale at the periphery. Examination of the hair frequently reveals trichorrhexis invaginata, which is visible using light microscopy as a bamboo-like configuration in which the distal hair shaft invaginates into the proximal one. Patients experience manifestations of the atopic triad including atopic dermatitis, food allergy, and asthma and often have marked elevation of serum immunoglobulin E (IgE). Itching can be severe.

Lamellar ichthyosis and congenital ichthyosiform erythroderma —LI and CIE typically present at birth with a collodion membrane, a tight translucent membrane covering the newborn's body that sheds in the first few weeks of life with emollient application.

In LI, the collodion membrane is replaced by thick hyperkeratosis with dark, plate-like adherent scales. Ectropion is prominent and palmoplantar keratoderma (thickening of the palms and soles) of varying severity is usually present. The hyperkeratosis may impair the sweat gland function, resulting in hypohidrosis. In CIE, scaling tends to...

Lamellar ichthyosis and congenital ichthyosiform erythroderma —LI and CIE typically present at birth with a collodion membrane, a tight translucent membrane covering the newborn's body that sheds in the first few weeks of life with emollient application.

In LI, the collodion membrane is replaced by thick hyperkeratosis with dark, plate-like adherent scales. Ectropion is prominent and palmoplantar keratoderma (thickening of the palms and soles) of varying severity is usually present. The hyperkeratosis may impair the sweat gland function, resulting in hypohidrosis. In CIE, scaling tends to be milder than in LI, with variable erythroderma and ectropion.