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.[2] 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.[2][3] 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.[4][5]
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.[2][3] It can be associated with Johanson–Blizzard syndrome, Adams–Oliver syndrome, trisomy 13, and Wolf–Hirschhorn syndrome.[6] It can also be seen with exposure to methimazole and carbimazole in utero.[7] This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.[8]
^Rodríguez-García C; González-Hernández S; Hernández-Martín A; Pérez-Robayna N; Sánchez R; Torrelo A (2011). "Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy". Pediatric Dermatology. 28 (6): 743–745. doi:10.1111/j.1525-1470.2011.01572.x. PMID 21995270. S2CID 12300265.
^Malan, Valerie; et al. (2009). "array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically". Journal of Medical Genetics. 46 (9). J. Med. Genet.: 635–40. doi:10.1136/jmg.2008.062034. PMID 19126570. S2CID 8491797. Retrieved April 8, 2009.
^Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573
^Browning, John C. (November 2013). "Aplasia cutis congenita: approach to evaluation and management: Aplasia cutis". Dermatologic Therapy. 26 (6): 439–444. doi:10.1111/dth.12106. PMID 24552406. S2CID 5861594.
External linksedit
Aplasia cutis congenita (ACC) on emedicine
January 01, 1970
aplasia, cutis, congenita, rare, disorder, characterized, congenital, absence, skin, ilona, frieden, classified, 1986, into, groups, basis, location, lesions, associated, congenital, anomalies, scalp, most, commonly, involved, area, with, lesser, involvement, . Aplasia cutis congenitais 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 2 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 2 3 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 4 5 Aplasia cutis congenitaOther namesACCAplasia cutis congenital is autosomal dominant 1 SpecialtyMedical genetics 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 2 3 It can be associated with Johanson Blizzard syndrome Adams Oliver syndrome trisomy 13 and Wolf Hirschhorn syndrome 6 It can also be seen with exposure to methimazole and carbimazole in utero 7 This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19 8 Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 External linksSigns and symptoms editThis section is empty You can help by adding to it May 2022 Review Edwards diseaseGenetics editThis condition has been linked to mutations in the ribosomal GTPase BMS1 gene 9 Diagnosis editThis section is empty You can help by adding to it August 2017 Treatment editSkin grafting is a solution to fix aplasia cutis congenita 10 See also editList of cutaneous conditions Aplasia cutis myopia syndromeReferences edit RESERVED INSERM US14 ALL RIGHTS Orphanet Aplasia cutis congenita www orpha net Retrieved 22 August 2017 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link a b c 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 a b Meena N Saxena AK Sinha S Dixit N Aplasia cutis congenita with fetus papyraceus Indian J Paediatr Dermatol 2015 16 48 9 Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6 ed McGraw Hill p 650 ISBN 978 0 07 138076 8 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10 ed Saunders p 572 ISBN 978 0 7216 2921 6 Online Mendelian Inheritance in Man OMIM 107600 Rodriguez Garcia C Gonzalez Hernandez S Hernandez Martin A Perez Robayna N Sanchez R Torrelo A 2011 Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy Pediatric Dermatology 28 6 743 745 doi 10 1111 j 1525 1470 2011 01572 x PMID 21995270 S2CID 12300265 Malan Valerie et al 2009 array CGH recognizable genetic condition identified by 19q13 11 deletion syndrome a novel clinically Journal of Medical Genetics 46 9 J Med Genet 635 40 doi 10 1136 jmg 2008 062034 PMID 19126570 S2CID 8491797 Retrieved April 8 2009 Marneros AG 2013 BMS1 is mutated in Aplasia Cutis Congenita PLoS Genet 9 6 e1003573 doi 10 1371 journal pgen 1003573 Browning John C November 2013 Aplasia cutis congenita approach to evaluation and management Aplasia cutis Dermatologic Therapy 26 6 439 444 doi 10 1111 dth 12106 PMID 24552406 S2CID 5861594 External links editAplasia cutis congenita ACC on emedicine Retrieved from https en wikipedia org w index php title Aplasia cutis congenita amp oldid 1222297848, wikipedia, wiki, book, books, library,
