aplasia cutis congenita

{{Infobox medical condition (new)

| name = Aplasia cutis congenita

| synonyms = ACC

| image = Autosomal dominant - en.svg

| caption = Aplasia cutis congenital is autosomal dominant{{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Aplasia cutis congenita|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1114|website=www.orpha.net|access-date=22 August 2017|language=en|archive-date=22 August 2017|archive-url=https://web.archive.org/web/20170822222853/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1114|url-status=live}}

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Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies.Moss C, Shahidulla H. Naevi and other developmental defects. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th ed. United Kingdom (UK): Wiley-Blackwell Publication; 2010. p. 18, 18.98-18. 106. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs.Meena N, Saxena AK, Sinha S, Dixit N. Aplasia cutis congenita with fetus papyraceus. Indian J Paediatr Dermatol 2015;16:48-9. It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.{{cite book|author=Freedberg|year=2003|title=Fitzpatrick's Dermatology in General Medicine|edition=6|publisher=McGraw-Hill|isbn=978-0-07-138076-8|page=650|display-authors=etal}}{{cite book|author1=James, William|author2=Berger, Timothy|author3=Elston, Dirk|year=2005|title=Andrews' Diseases of the Skin: Clinical Dermatology|edition=10|publisher=Saunders|isbn=978-0-7216-2921-6|page=572}}

The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson–Blizzard syndrome, Adams–Oliver syndrome, trisomy 13, and Wolf–Hirschhorn syndrome.{{OMIM|107600}}

It can also be seen with exposure to methimazole and carbimazole in utero.{{cite journal|author1=Rodríguez-García C|author2=González-Hernández S|author3=Hernández-Martín A|author4=Pérez-Robayna N|author5=Sánchez R|author6=Torrelo A|title=Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy|journal=Pediatric Dermatology|year=2011|volume=28|number=6|pages=743–745|pmid=21995270|doi=10.1111/j.1525-1470.2011.01572.x|s2cid=12300265}} This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.{{cite journal|last=Malan|first=Valerie|title=array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically|journal=Journal of Medical Genetics|volume=46|issue=9|pages=635–40|url=http://jmg.bmj.com/cgi/content/abstract/jmg.2008.062034v1|publisher=J. Med. Genet.|access-date=April 8, 2009|display-authors=etal|doi=10.1136/jmg.2008.062034|pmid=19126570|year=2009|s2cid=8491797|archive-date=August 27, 2021|archive-url=https://web.archive.org/web/20210827223800/https://jmg.bmj.com/content/46/9/635.abstract|url-status=live}}