Aplasia Cutis Congenita

Abstract

Letters to the EditorAplasia Cutis Congenita Suresh Dargan and MBBS, MS Sandeep K. DeyMBBS, MD Suresh Dargan Department of Orthopedics Search for more papers by this author and Sandeep K. Dey Department of Pediatrics, Government General Hospital, Rafha, North Zone, Saudi Arabia Search for more papers by this author Published Online:1 Mar 1999https://doi.org/10.5144/0256-4947.1999.177aSectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionTo the Editor. We read with interest the article on aplasia cutis congenita by Bhatt et al. and would like to share our experience with an unusual case associated with dysmorphic facies, cranium bifidum occulta, anophthalmia, dextrocardia and distal limb malformation. This association, to the best of our knowledge, has not been reported before in the Middle East.A full-term male baby was born in the hospital by normal vaginal delivery to a 35-year-old Saudi, gravida 6 para 5, following an uncomplicated pregnancy. There was no history of obstetrical trauma. The parents were non-consanguineous. There was no family history of any congenital malformation. At birth, the baby's weight was 2750 g, length was 48 cm and head circumference was 34 cm. Physical examination revealed a 3x3 cm clover leaf-shaped sharply demarcated skin defect surrounded by a patch of alopecia in the scalp over the vertex in the midline (Figure 1). The floor of the defect was covered by a yellowish membrane formed of dura. Palpitation revealed underlying bony deficiency covering an area of 8x5 cm.Figure 1. A patch of alopecia in the scalp over the vertex in the midline.Download FigureThe face was slightly asymmetrical, with low-set and malformed ears, broad and bulbous nose, narrow palpebral fissures and absent eyeballs. The hands showed flexion contracture of the fingers, clinodactyly of the index fingers, postaxial Polydactyly and hypoplastic nails. The feet showed bilateral rockerbottom deformity, fibular Polydactyly and hallux valgus. The baby was found to have cranium bifidum and dextrocardia on investigations, including skiagraphy and CT scan. The baby died of respiratory infections within the first few days of life.Aplasia cutis congenita (ACC) is a heterogenous group of disorders first reported by Cordon in 1767.2 Although it is a sporadic disorder, both autosomal recessive and dominant patterns of inheritance have been observed. Frieden3 classified ACC according to the number and location of lesions and the presence or absence of associated malformations into nine groups: 1) scalp ACC without multiple anomalies; 2) scalp ACC with associated limb anomalies; 3) scalp ACC with associated epidermal and organoid nevi; 4) ACC overlying embryologic malformation; 5) ACC with associated fetus papyraceous or placental infarct; 6) ACC associated with epidermolysis bullosa; 7) ACC localized to extremities without blistering; 8) ACC caused by teratogens; and 9) ACC associated with malformation syndromes.Associated developmental defects are rare. They may be associated with some malformation syndromes, such as Patau's syndrome (trisomy 13), Wolf-Hirschhorn syndrome (4 p−), ectodermal dysplasia, Johanson-Blizzard syndrome, focal dermal hypoplasia, amniotic band disruption complex and gonadal dysgenesis.3The clinical picture of our case resembles Patau's syndrome. We did not perform chromosomal studies due to lack of facilities. However, chromosomal studies are probably warranted in any child with scalp aplasia cutis congenita associated with multiple congenital anomalies when a specific syndrome is not identified, since mosaicism and partial trisomy 13 can show less severe phenotypes. Once evaluation has been completed, and a specific diagnosis is established, genetic counselling of the family regarding the risk of recurrence can be accomplished.ARTICLE REFERENCES:1. Bhat FA, Mathur BS, Hussain MT, Khalil F. "Aplasia cutis congenita: a report of five cases in Riyadh" . Ann Saudi Med. 1998; 18: 185–6. Google Scholar2. Cordon M. "Extrait d'une lettre au sujet de trois enfants de la même mère nés avec partie des extremités denuée de peau" . J Med Chir Pharmacie. 1767; 26: 556–7. Google Scholar3. Frieden IJ. "Aplasia cutis congenita: a clinical review and proposal for classification" . J Am Acad Dermatol. 1986; 14: 646–60. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 19, Issue 2March 1999 Metrics History Published online1 March 1999 InformationCopyright © 1999, Annals of Saudi MedicinePDF download