scholarly journals Isolated bilateral symmetrical aplasia cutis congenita of lower limbs in a newborn: A rare entity

Author(s):  
Dr. Rajni Kamble ◽  
Dr. Anshul Pahwa
Author(s):  
GUSTAVO DE SOUSA MARQUES OLIVEIRA ◽  
KLEDER GOMES DE ALMEIDA ◽  
PAULETE YURI NOKARYA ◽  
GABRIEL RAHAL COSTA ◽  
PATRÍCIA COSTA DE OLIVEIRA CAMPOS

2016 ◽  
Vol 23 (1) ◽  
pp. 1-8
Author(s):  
Yasir S. Jamal ◽  
Moaath Saggaf ◽  
Sabah S. Moshref ◽  
Mazen O. Kurdi ◽  
Bayan Ghabashi

Aplasia cutis congenita is a rare disorder characterized by absence of the skin and skin appendages. The incidence ranges between 1:10,000 and 2.8:10,000. The management in the literature varies considerably between conservative management and surgery. A retrospective review of all the cases of aplasia cutis congenita was conducted from King Abdulaziz University Hospital, Jeddah, Saudi Arabia. The study period was from January 2004 to December 2014. Data were collected using chart review and the pictures from plastic and pediatric surgery teams. Data were analyzed using simple descriptive statistics. A total of eight cases were recruited to the study. Average follow up was two years. Six lesions were located on the scalp and two were located on the lower limbs. Seven cases were managed conservatively and one case required full thickness skin grafting for a bleeding superior sagittal sinus. Only one death was documented, and was related to a syndrome. The management of aplasia cutis congenita is related to the defect size and depth. When surgery is indicated, skin grafting is a simple, safe and highly recommended choice of surgical management for the coverage of the skin defect and to control bleeding from underlying superior sagittal sinus in deep lesions.


2014 ◽  
Vol 3 (3) ◽  
pp. 172
Author(s):  
ChandraMadhur Sharma ◽  
Deepti Sharma ◽  
Romal Kumar

2009 ◽  
Vol 42 (02) ◽  
pp. 261-264 ◽  
Author(s):  
Tarek A. Abulezz ◽  
Mahmoud A. Shalkamy

ABSTRACTAplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin and in some cases, the subcutaneous tissues. The majority of cases occur in the scalp; however, the lesion may occur anywhere in the trunk and extremities. ACC is most often an isolated defect, but it can be associated with other anomalies. Most reported cases are sporadic with a few reports of familial occurrence. Neither the pathogenesis nor the aetiology is clarified. Healing is spontaneous in most cases, and apart from keeping the lesion clean, no specific treatment is required. In this report, two cases of non-scalp ACC occurring in the lower limbs are presented and a brief review of the literature is conducted.


2021 ◽  
Vol 12 ◽  
Author(s):  
Melinda Matyas ◽  
Diana Miclea ◽  
Gabriela Zaharie

Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita.Case Description: A case of a male preterm newborn with suspicion of digestive tube malformation at fetal ultrasound and who was born by cesarian section. At birth, he presented extensive cutaneous aplasia on the lower limbs and bilaterally under ears; outer ear agenesis; nasal septum hypoplasia; micrognathia; multiple blisters on the face, trunk, and limbs; lower limb deformities and absence of toe nails. Pathological examination following a surgical procedure with unfavorable outcome showed pyloric atresia, junctional form of epidermolysis bullosa and aplasia cutis congenita. Homozygous variants in two genes were identified: c.3111+1G>A in ITGB4 (class 5) and c.1498G>T in KRT10 (class 3).Conclusion: The particularity of our case is the novel finding of a coincidental occurrence in the context of consaguinity of two mutations in the ITGB4 and KRT10 genes, and clinical characteristics of epidermolysis bullosa.


2005 ◽  
Vol 67 (3) ◽  
pp. 215-217
Author(s):  
Kenji IWATA ◽  
Shigeru OKADA

2001 ◽  
Vol 63 (5) ◽  
pp. 489-490
Author(s):  
Aki FUJISAKI ◽  
Wataru RIKIHISA ◽  
Hiromaro KIRYU ◽  
Juichiro NAKAYAMA ◽  
Tetsuya KOGA

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