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13 Cards in this Set
- Front
- Back
Clinical Aplasia Cutis Congenita
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Inheritance
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Autosomal dominant (AD), recessive (AR), or sporadic dependent on subtype
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Prenatal
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Ultrasound
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Incidence
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Hundreds of case reports; M=F; group I most common
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Age at Presentation
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Birth
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Pathogenesis
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Depending on subtype, a genetic defect, trauma, teratogen, or infection causes a localized congenital absence of the epidermis, dermis, or subcutis with/without underlying bone (20% to 30%)
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Clinical
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General
Aplasia cutis congenita (ACQ 0.5 to 10 cm solitary (70%) or multiple well -demarcated superficial erosions, deep ulcerations with thin membrane or atrophi( scars with alopecia on scalp (80%) or any part of the body; heal with scar within weeks after birth; larger lesions usually the deepest with possible extension to duro and increased risk for meningitis, venous thrombosis, and sagittal sinus hemorrhaage. |
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Clinical
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Group I (AD or sporadic)
Scalp ACC without multiple anomalies Group 2 (AD) Scalp ACC (midline) with associated limb abnormalities Associated Findings Hypoplastic or absent phalanges, hands, lower extremities; cutis marmorata Group 3 (sporadic) Scalp ACC with associated epidermal or organoid nevi Associated Findings Epidermal, organoid nevi; corneal opacities, mental retardation, seizures Group 4 ACC overlying embryologic malformations Associated Findings Meningomyeloceles, spinal dysraphia, omphalocoele, gastroschisis |
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Clinical
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Group 5 (sporadic)
ACC with associated fetus papyraceus or placental infarcts Associated Findings Multiple, symmetric, stellate, or linear ACC on trunk or extremities of surviving twin or triplet Group 6 ACC associated with epidermolysis bullosa Group 7 (AD or AR) ACC localized to extremities without blistering Group 8 ACC caused by teratogens or intrauterine infection Associated Findings Scalp ACC (methimazole); any area with varicella or herpes simplex Group 9 ACC associated with malformation syndromes Associated Findings Trisomy 13, 4p syndrome, ectodermal dysplasias, focal dermal hypoplasia, am¬niotic band syndrome, Opitz syndrome, Adams Oliver syndrome, oculocerebro-cutaneous syndrome, Johanson Blizzard syndrome, Xp22 microdeletion syn-drome, chromosome 16 18 defect |
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D/Dx
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Trauma from fetal scalp monitor, forceps delivery, Nevus sebaceous, Localized scalp infection, Congenital dermoid cyst , Meningocele, Scarring alopecia, Heterotopic neural tissue, Herpes simplex virus
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Lab
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Skin biopsy (if diagnosis uncertain), viral culture MRI (lumbosacral) Cranial ultrasound screen beneath ACC in infants with open fontanelle
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Management
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Referral to dermatology meticulous wound care to prevent secondary infection and further trauma
Referral to plastic surgery assess need for skin/bone graft Referral to symptom specific specialist if significant associated findings |
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Prognosis
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Most lesions heal within weeks to months leaving a hairless, smooth, yellowish atrophic scar; also dependent upon associated findings
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