Aplasia cutis congenita (overview) Q84.81

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

ACC; aplasia cutis; aplasia cutis circumscripta; Aplasia cutis localisata congenita; Aplasia cutis totalis; congenital abscence of skin; congenital scars; Cutis aplasia

History
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Cordon, 1767

Definition
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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.

Classification
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9 forms are distinguished (classification according to peace):
Group Main criterion Associations
1 Scalp: ACC without or only with isolated anomalies LKGS, CMTC, PDA, tracheoesophageal fistulas
2 Scalp: ACC with limb reduction defect Adams-Oliver Syndrome
3 Scalp: ACC with associated epidermal nevi Naevus sebaceus; naevus verrucosus
4 ACC with underlying embryonic malformations Encephalocele, meningocele, spina bifida, omphalocele
5 ACC with associated fetus papyraceus
6 ACC with epidermolysis bullosa
7 ACC in the extremities Association with EB simplex, junctionalis or dystrophica
8 ACC in combination with specific teratogens Methimazole, intrauterine HSV or VZV infection
9 ACC in connection 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/Epidemiology
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Incidence: 20/100.000 newborns.

Etiopathogenesis
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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).

Manifestation
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In larger studies the female sex predominates ( w:m = about 7:3). The mean age at diagnosis was 5.7 years.

Localization
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Preferably hairy head (70%), here in the occipital vertex area.

Rare cheek area, trunk (25%) or the proximal extremities/buttocks (5%).

Clinical features
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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.

Histology
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The complete absence of follicular structures (neither epithelial nor mesenchymal parts of the follicles are detectable) is immediately noticeable. Collagen bundles aligned parallel in sections. The surface epithelium is usually normally structured.

Diagnosis
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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.

Complication(s)
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Secondary infection.

Therapy
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In case of small aplasia, sterile wound dressing, wait for epithelialisation, usually problem-free healing. In the case of large-area defects, plastic covering may be necessary, otherwise treatment according to burns. At a later age, excision of cosmetically disturbing defects may be necessary.

Note(s)
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There are associations with other malformations like sebaceous nevus, flammeous nevus and epidermal nevi. Cave! Before an excision, a sonographic examination or, in older children, an x-ray of the skull must be arranged!

Literature
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  1. Ahcan U et al (2002) Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surgery 55: 530-532
  2. Bonioli E (2005) Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. Am J Med Genet A 132: 202-205
  3. Colon-Fontanez F et al (2003) Bullous aplasia cutis congenita. J Am Acad Dermatol 48: S95-98
  4. 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
  5. Lawrence T et al (2005) Autosomal-dominant primary immunodeficiencies. Curr Opin Hematol 12: 22-30
  6. Meester JA et al (2015) Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. At J Hum Genet 97:475-482
  7. Mesrati H et al (2015) Aplasia cutis congenita: report of 22 cases. Int J Dermatol doi: 10.1111/ijd.12707
  8. 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

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020