|IMAGES IN NEONATOLOGY
|Year : 2014 | Volume
| Issue : 3 | Page : 172-173
Aplasia cutis congenita type 6: A rare entity
Romal Kumar1, Chandra Madhur Sharma2, Deepti Sharma3
1 Department of Paediatrics, Paediatric Critical Care Unit, Narayana Hrudayalaya, Bengaluru, Karnataka, India
2 Department of Paediatrics, Rama Medical College, Hospital and Research Centre, Kanpur, Uttar Pradesh, India
3 Department of Obstetrics and Gynaecology, G.S.V.M. Medical College, Kanpur, Uttar Pradesh, India
|Date of Web Publication||8-Sep-2014|
Dr. Chandra Madhur Sharma
8/218, Flat No. H, Indralok Apartment, Arya Nagar, Kanpur - 208 002, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Aplasia cutis congenita is defined as congenital localized absence of skin. This absence of skin most commonly affects the scalp, but any location of the body surface can be affected. Most patients with aplasia cutis congenita have no other anomalies. Aplasia cutis involving trunk and extremities in association with Epidermolysis bullosa is extremely rare. We describe a neonate with this rare disease having multiple other anomalies.
Keywords: Aplasia cutis congenita, epidermolysis bullosa, microtia
|How to cite this article:|
Kumar R, Sharma CM, Sharma D. Aplasia cutis congenita type 6: A rare entity. J Clin Neonatol 2014;3:172-3
| Introduction|| |
Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin (Online Mendelian Inheritance in Man: 107,600). This absence of skin most commonly affects the scalp, but any location of the body surface can be affected, including the trunk, arms, and legs.  The reported incidence of ACC is 2.8 cases/10,000 newborn.  Most patients with ACC have no other abnormalities, although the condition may be associated with congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial; teratogens, genetic factors, trauma, and compromised skin perfusion each seems to play a role.
Nine forms have been described by Frieden based on the number and the presence or absence of other anomalies.  Nearly 86% belong to the first group, with a solitary lesion over the scalp without any other congenital anomaly. This condition may be associated with other malformations like low set abnormal ears, duodenal atresia, trachea-esophageal fistula, large fontanelle, narrow palpebral fissures, micrognathia, cleft palate, hypoplasia of nose, joint contractures, rocker bottom feet, genito-urinary malformations. , ACC type-6 is characterized by epidermolysis bullosa (EB) in association with aplasia of skin usually of lower extremities. , Aplasia cutis involving trunk and extremities in association with EB is extremely rare. We describe a neonate with this uncommon disease having some other anomalies. A preterm male baby weighing 1350 g was born at 32 weeks of gestation to a second gravida mother with a previous history of one abortion. Baby was a product of the third degree consanguineous marriage and antenatal period was uneventful.
He was delivered by vaginal route. On examination, this preterm baby had respiratory distress with expiratory grunt. There were multiple well demarcated areas showing absence of skin over neck, extremities and trunk of varying sizes with no overlying redundant bullae [Figure 1] and [Figure 2]. The palms and soles were also involved. He had bilateral microtia, antenatal ultrasonography at 30 weeks gestation revealed left sided hydronephrosis. Baby had no other apparent congenital anomalies. There was no family history of similar lesions. There was no history of any drug intake or significant infection during the antenatal period.
|Figure 1: Clinical photograph showing aplastic lesions over the neck and extremities|
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|Figure 2: Clinical photograph showing skin defects with exposed underlying veins of lower extremities|
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The baby was ventilated on day 1 as he was not maintaining SpO 2 on continuous positive airway pressure, vasopressors were given for cardiovascular instability and intravenous antibiotics were started along with local dressing of affected areas with mupirocin. In spite of aggressive supportive management, baby succumbed to infection and died on day 4 because of septicemia.
| References|| |
|1.||Morelli JG. Cutaneous defects. In: Nelson Textbook of Pediatrics. 18 th ed., Ch. 647. Philadelphia, PA: Saunders Elsevier; 2007. |
|2.||Martinez-Regueira S, Vazquez-Lopez ME, Somoza-Rubio C, Morales-Redondo R, Gonzalez-Gay MA. Aplasia cutis congenita in a defined population from northwest Spain. Pediatr Dermatol 2006;23:528-32. |
|3.||Frieden IJ. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60. |
|4.||McCarthy MA, Clarke T, Powell FC. Epidermolysis bullosa and aplasia cutis. Int J Dermatol 1991;30:481-4. |
[Figure 1], [Figure 2]