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Aplasia cutis congenita - Skin in Infant/Neonate
See also in: Hair and Scalp
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Aplasia cutis congenita - Skin in Infant/Neonate

See also in: Hair and Scalp
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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed

Synopsis

Aplasia cutis congenita is a congenital disorder seen in newborns. It typically manifests as an absence of the skin of the scalp but can occur in any location. While most children have no other associated abnormalities, cleft lip and palate, tracheoesophageal fistula, double cervix and uterus, patent ductus arteriosus, coarctation of the aorta, cutis marmorata telangiectatica congenita, AV fistulas, CNS dysraphisms, and intestinal lymphangiectasia have been reported with the anomaly. The newborn can present with an open erosion or a healed, depressed scar.

Codes

ICD10CM:
Q84.8 – Other specified congenital malformations of integument

SNOMEDCT:
35484002 – Aplasia cutis congenita

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Many cases of aplasia cutis congenita do not have other associated findings. However, the lesion has been associated with trisomy 13, which should be considered if other signs and symptoms of trisomy 13 are present.

Aplasia cutis congenita is also seen in focal dermal hypoplasia (Goltz syndrome), epidermolysis bullosa simplex, and defects in other genes affecting several other morphogenic pathways.

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Therapy

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References

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Last Updated: 03/02/2015
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Aplasia cutis congenita - Skin in Infant/Neonate
See also in: Hair and Scalp
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Aplasia cutis congenita : Scalp, Skin erosion, Skin ulcer, Atrophic scar
Clinical image of Aplasia cutis congenita
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