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Aplasia cutis congenita (overview)Q84.81
Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Very rare, mostly sporadically occurring, congenital skin defect (epidermis and dermis, possibly deeper layers not applied) An autosomal dominant occurring aplasia cutis in 3 generations was described.
ClassificationThis section has been translated automatically.
9 forms are distinguished (classification by peace):
| Group | Main criterion | Associations |
| 1 | Scalp: ACC without or only with isolated anomalies. | LKGS, CMTC, PDA, tracheoesophageal fistulae |
| 2 | Scalp: ACC with limb reduction defect | Adams-Oliver syndrome |
| 3 | Scalp: ACC with associated epidermal nevi | nevus sebaceus; nevus verrucosus |
| 4 | ACC with underlying embryonic malformations | encephalocele, meningocele, spina bifida, omphalocele |
| 5 | ACC with associated fetus papyraceus | |
| 6 | ACC with epidermolysis bullosa Barth syndrome) | Pyloric atresia, ureteral stenosis, renal anomalies, rudimentary ear development, flattened nose |
| 7 | ACC in the extremities | association with EB simplex, junctionalis or dystrophica |
| 8 | ACC in association with specific teratogens | Methimazole, intrauterine HSV or VZV infection. |
| 9 | ACC in association with malformation syndromes | Trisomy D (chromosomes 13-15), Opitz syndrome, Goltz-Gorlin syndrome, oculocerebrocutaneous syndrome = Delleman-Oorthuys syndrome |
| ACC = aplasia cutis congenita; CMTC = cutis mamorata teleangiectatica; EB = epidermolysis bullosa; LKGS = cleft lip and palate; PDA = persistent ductus arteriosus | ||
Occurrence/EpidemiologyThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Cause unknown.
In a few cases association with severe embryonic malformations (omphalocele, gastroschisis, spina bifida).
In this respect a defect of the neural tube is discussed or an incomplete closure of embryonic fusion lines.
In some cases exogenous causes have been identified, such as embryotoxic (thiamazole, methimazole) as well as obstetric or mechanical causes (adhesion of amniotic membranes).
ManifestationThis section has been translated automatically.
In larger studies the female sex predominates ( w:m = about 7:3). The mean age at diagnosis was 5.7 years.
LocalizationThis section has been translated automatically.
Preferably hairy head (70%), here in the occipital vertex area.
Rare cheek area, trunk (25%) or the proximal extremities/buttocks (5%).
Clinical featuresThis section has been translated automatically.
At birth there is a solitary (very rare are multiple foci), roundishly circumscribed (linear aplasia-cutis-congenita cases are described), 0.5-7.0 cm large (rarely also larger), hairless, velvety reddened, epithelium-free "wound", which is covered by a thin, parchment-like membrane.
The lesion is not always noticeable at birth, as it may be surrounded by a dense ring of hair. The degree of "aplasia" varies. It ranges from complete absence of epidermis, dermis, subcutis, periosteum, cranial bone and dura to a mere underdevelopment of epidermis and dermis. Skeletal deformities occur in about 10% of cases.
Risk of infection due to slight vulnerability of the area.
In later years of life, an atrophic, pale, hairless "scar" with a parchment-like surface impresses, which apart from the cosmetically disturbing aspect does not cause any complaints.
Aplasia cutis congenita can occur as a partial manifestation of Adam's-Oliver syndrome, a complex hereditary (autosomal dominant) malformation syndrome with ectodactyly and vascular malformations of varying expressiveness.
HistologyThis section has been translated automatically.
DiagnosisThis section has been translated automatically.
The clinical aspect is diagnostic! If the diagnosis is in the midline of the skull, a sonographic examination is necessary to exclude an (anterior or posterior) encephalocele.
Differential diagnosisThis section has been translated automatically.
Alopecia areata: histological clarification; follicular structure preserved.
Nevus psiloliparus which usually presents clinically as congenital unilateral alopecia in the frontal or frontal-parietal region, with well-defined, sometimes irregular borders, skin-like or slightly yellowish in color.
Complication(s)This section has been translated automatically.
TherapyThis section has been translated automatically.
Note(s)This section has been translated automatically.
LiteratureThis section has been translated automatically.
- Ahcan U et al (2002) Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg 55: 530-532
- Alfayez Y et al (2017) A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome Case Rep Dermatol 9:112-118.
- Bonioli E (2005) Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. Am J Med Genet A 132: 202-205.
- Colon-Fontanez F et al (2003) Bullous aplasia cutis congenita. J Am Acad Dermatol 48: S95-98.
- Cordon M (1767) Extrait d'une lettre an sujet de trois enfants de la meme mère nés avec partie des extrémités dénuée de peau. J Med Chir Pharmacie 26: 556-557.
- Lawrence T et al (2005) Autosomal-dominant primary immunodeficiencies. Curr Opin Hematol 12: 22-30.
- Meester JA et al (2015) Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome. Am J Hum Genet 97:475-482.
- Mesrati H et al (2015) Aplasia cutis congenita: report of 22 cases. Int J Dermatol doi: 10.1111/ijd.12707.
- Ribuffo D et al (2003) Aplasia cutis congenita of the scalp, the skull, and the dura. Scand J Plast Reconstr Surg Hand Surg 37: 176-180.