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11 Cards in this Set

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Clinical Lamellar Ichthyosis
Inheritance
Autosomal recessive; transglutarninase I (TGM I) gene on 14q11
Prenatal
Chorionic villus sampling (CVS)/amniocentesis: TGMI gene mutation or linkage analysis in families where molecular defect is known;
fetal skin biopsy at 22 weeks
Incidence
Less than 1:300,000; M=F
Age @P
Birth
Pathogenesis
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
Clinical
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
D/Dx
Epidermolytic hyperkeratosis (p. 6)
X linked ichthyosis (p. 4)
Congenital ichthyosiform erythroderma (p. 12)
Netherton syndrome (p. 24)
Trichothiodystrophy
Lab
Skin biopsy in situ detection of transglutaminase 1 expression and activity

Light microscopic hair examination (if alopecia)

Sepsis workup (newborn
Manage
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
Prognosis
Severe involvement throughout life; normal life span