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11 Cards in this Set
- Front
- Back
Clinical Lamellar Ichthyosis
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Inheritance
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Autosomal recessive; transglutarninase I (TGM I) gene on 14q11
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Prenatal
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Chorionic villus sampling (CVS)/amniocentesis: TGMI gene mutation or linkage analysis in families where molecular defect is known;
fetal skin biopsy at 22 weeks |
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Incidence
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Less than 1:300,000; M=F
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Age @P
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Birth
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Pathogenesis
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Heterogeneous mutations in the TGM I gene interfere with the normal cross linking of structural proteins in the protein and lipid envelope of the upper epidermis leading to defective cornification and desquarnation
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Clinical
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Skin
Newborn Collodion baby with translucent membrane encasing body, ectropion, eclabium, generalized erythroderma; at risk for secondary sepsis, hypernatremic dehydration; membrane shed in first few days to weeks of life Child/Adult Generalized large, dark, platelike scale increased in flexures; erythroderma; ectropion; palmoplantar keratoderma; decreased sweating with heat intolerance Hair: Scarring alopecia Nails: Secondary dystrophy with nail fold inflammation |
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D/Dx
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Epidermolytic hyperkeratosis (p. 6)
X linked ichthyosis (p. 4) Congenital ichthyosiform erythroderma (p. 12) Netherton syndrome (p. 24) Trichothiodystrophy |
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Lab
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Skin biopsy in situ detection of transglutaminase 1 expression and activity
Light microscopic hair examination (if alopecia) Sepsis workup (newborn |
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Manage
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Newborn
Transfer to neonatal intensive care unit monitor fluids, electrolytes, and for sepsis; emolliation, high humidity chamber Child/Adult Retinoids; Emolliation Counsel regarding: avoiding strenuous activity, overheating |
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Prognosis
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Severe involvement throughout life; normal life span
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