Aplasia Cutis Congenita

Front 1

Clinical Aplasia Cutis Congenita

Back 1

Front 2

Inheritance

Back 2

Autosomal dominant (AD), recessive (AR), or sporadic dependent on subtype

Front 3

Prenatal

Back 3

Ultrasound

Front 4

Incidence

Back 4

Hundreds of case reports; M=F; group I most common

Front 5

Age at Presentation

Back 5

Birth

Front 6

Pathogenesis

Back 6

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%)

Front 7

Clinical

Back 7

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.

Front 8

Clinical

Back 8

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

Front 9

Clinical

Back 9

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

Front 10

D/Dx

Back 10

Trauma from fetal scalp monitor, forceps delivery, Nevus sebaceous, Localized scalp infection, Congenital dermoid cyst , Meningocele, Scarring alopecia, Heterotopic neural tissue, Herpes simplex virus

Front 11

Lab

Back 11

Skin biopsy (if diagnosis uncertain), viral culture MRI (lumbosacral) Cranial ultrasound screen beneath ACC in infants with open fontanelle

Front 12

Management

Back 12

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

Front 13

Prognosis

Back 13

Most lesions heal within weeks to months leaving a hairless, smooth, yellowish atrophic scar; also dependent upon associated findings