Aplasia cutis congenita
| Aplasia cutis congenita | |
|---|---|
| Other names | ACC |
 | |
| Aplasia cutis congenital is autosomal dominant[1] | |
| Specialty | Medical genetics  |
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]
Signs and symptoms
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Review Edwards disease
Genetics
This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.[9]
Diagnosis
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Treatment
Skin grafting is a solution to fix aplasia cutis congenita.[10]
See also
References
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Aplasia cutis congenita". www.orpha.net. Retrieved 22 August 2017.
{{cite web}}: 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
- ^ 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 links