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Table 1 Classification for Aplasia cutis congenita (ACC), modified [2,3,4]

From: Recognizable neonatal clinical features of aplasia cutis congenita

 localizationAssociated malformationsMode of inheritance
1-nonsyndromicACCScalp, usually paramedian vertexOccasionally other ectodermal anomalies inclusive supernumerary nipplesAD (BMS1)/sporadic
2-ACC with limb abnormalitiesMidline scalp• Transverse limb defects (Adams-Oliver syndrome)
• Cardiovascular anomalies: congenital heart defects (e.g. Fallot), Cutis marmorata teleangectasica congenita (19%), incomplete retinal vascularization, hemangioma, hepatoportal sclerosis, stenoses of pulmonary and intestinal veins, placental vascular abnormalities, woolly hair
• ocular and CNS malformations
AD (gens ARHGAP31, DLL4, NOTCH1, RBPJ)/AR (gens DOCK6, EOGT)
3-ACC with epidermal neviScalp, symmetrical distribution• conjuntival and corneal limbal dermoids (oculo-ectodermal syndrome of Toriello-Lacassie-Droste)
• sebaceous nevus, CNS malformations, limbal dermoids, pigmented nevus (SCALP syndrome)
• didymosis aplasticosebacea
4-ACC overlying embryologic malformationScalp, trunkmeningomyelocele, porencephaly, leptomeningeal angiomatosis, cranial stenosis, spinal dysraphism, gastroschisis, omphalocele, bladder exstrophyDepending on underlying causes
5-ACC with fetus papyraceus or placental infarctsScalp, trunk, extremities (multiple, symmetric areas, often stellate)Single umbilical artery, fetal growth restriction, limb anomalies, amniotic bandsSporadic
6-ACC of extremities associated to epidermolysis bullosaPredominantly extremitiesBlistering of skin, gastrointestinal atresies, anomalies of ears, kidneys and skeleton, artrogryposis, nail deformities (Bart syndrome and other dystrophic forms of epidermolysis bullosa)AD/AR/sporadic
7- ACC of extremities not associated to epidermolysis bullosaExtremities (extensor areas)AD/AR
8-ACC caused by teratogensScalp (methimazole), diffuse (varicella, herpes simplex)Anorectal malformation (methimazole), hepatosplenomegaly and other signs of intrauterine infections (varicella, herpes simplex), hypertrophic cardiomyopathy in children of diabetic mother
9-ACC associated with malformation syndromesCraniofacial, trunk• trisomy 13
• 4p deletion syndrome
• Xp22.2 deletion syndrome
• Xp22.31 ectodermal dysplasia
• TP63 associated syndromes (Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Hay-Wells syndrome; Acro-dermato-ungual-lacrimal-tooth syndrome)
• bitemporal ACC (Brauer, Brauer-Setleis and Setleis syndromes)
• Kabuki syndrome
• intestinal malabsorption (Johanson-Blizzard syndrome)
• intestinal lymphangiectasia (Bronspiegel-Zelnick syndrome)
• oculocerebrocutaneous syndrome with cerebellar anomalies (Delleman syndrome)
• scalp-ear-nipple syndrome (Finlay-Marks syndrome)
• Knobloch syndrome (retinal detachement, occipital primary encephalocele)
• amniotic band disruption complex
Depending on specific syndrome: AD/AR/X-linked/sporadic