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Doaa Hegab 29-6-2009

Doaa Hegab 29-6-2009. Ichthyosis prematurity syndrome. Is a rare syndrome (AR)characterized by the clinical triad of premature birth , thick caseous desquamating epidermis giving impression of excessive varnix caseosa , and neonatal asphyxia.

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Doaa Hegab 29-6-2009

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  1. Doaa Hegab 29-6-2009

  2. Ichthyosis prematurity syndrome • Is a rare syndrome (AR)characterized by the clinical triad of premature birth, thick caseous desquamating epidermis giving impression of excessive varnix caseosa, and neonatal asphyxia.

  3. Electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. • Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period. • (J Am Acad Dermatol 2008;59:S71-4).

  4. In IPS, the pregnancy is complicated by polyhydramnion and an opaque amnion fluid because of the shedding of large amounts of epidermal cells • Soon after the critical neonatal period the child’s health improves rapidly, changing to dryness of the skin, wide spread monomorphous follicular hyperkeratosis, and fine white scaling at the scalp that persists into adulthood. • Slight blood eosinophilia • A strongly positive Darier sign& positive urticarial • Flexural dermatitis and an association with atopic dermatitis has been found.

  5. Ichthyosis cribriformis: ichthyosis characterized by innumerable keratotic plugs or depressed cones, resulting in a peculiar sievelike appearance.

  6. These plugs and depressions were all of a similar size, were most conspicuous over the joints, and involved almost the whole body surface, sparing mucous membranes. • The palms and soles did not show the keratotic plugs or depressions, but were thickened. • No abnormality in hair, eyelashes, or eyebrows, but body hair was very sparse or virtually absent. Nails and teeth were normal.

  7. On histopathologic examination -The epidermis showed a pronounced orthohyperkeratosis. The keratotic plugs seemed to emerge from the infundibular region of hair follicles. • Immunohistochemical characterization revealed a normal keratin and filaggrin expression. • Oral treatment with isotretinoin resulted in a reduction of the hyperkeratosis. papillomatosis, orthohyperkeratosis, and focal hypergranulosis (J Am Acad Dermatol 2008;58:505-7.)

  8. Lamellar ichthyosis treated with tazarotene 0.1% gel • Tazarotene 0.1% gel applied to the affected areas once daily for 2 weeks, followed by 3 times a week for 2 weeks, and then once weekly as a maintenance regimen. • Within 2 weeks, the patient noted marked improvement in scaling. Within 1 month, his scaling was minimal, and he no longer experienced decreased sweating or heat intolerance. (J AM ACAD DERMATOL, NOVEMBER 2006)

  9. binding to RAR gamma and RAR-beta receptors, and 90% of retinoid receptors in the skin are of the RAR-gamma subtype. RAR-gamma receptor specificity may be one reason tazarotene can be more effective than systemic retinoids that do not demonstrate receptor specificity.

  10. Treatment Of Congenital Ichthyosis With Acitretin • A newborn infant with ichthyosis 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 after treatment. The treatment resulted in a satisfactory improvement in the skin condition of the case. • The tolerance to the drug was good. Side effects were not observed. • The oral acitretin treatment is efficient in severe congenital ichthyosis. (The Internet Journal of Pediatrics and Neonatology™ ISSN: 1528-8374)

  11. Early management of severe ichthyosis cases can prevent life-threatening events. In severe congenital ichthyosis cases, mortality due to the complications, is high in the neonatal period. Therefore, acitretin treatment seems to be the most efficient treatment in severe congenital ichthyosis with no major side effects and easy oral application.

  12. Autosomal recessive congenital ichthyoses (ARCI)include several severe subtypes including: - harlequin ichthyosis (HI), - lamellar ichthyosis and - non-bullous congenital ichthyosiform erythroderma. Five causative genes and molecules have been identified. *ABCA12 * transglutaminase 1 gene (TGM1) * two lipoxygenase genes, ALOXE3 and ALOX12B * Ichthyin. HI } LI or NBCIE

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