scholarly journals Bullous aplasia cutis congenita: A report of two cases and brief review of the selected literature

2019 ◽  
Vol 76 (3) ◽  
pp. 345-348
Author(s):  
Sonja Prcic ◽  
Aleksandra Matic ◽  
Sladjana Jablanovic ◽  
Milan Matic ◽  
Zorica Gajinov ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect ◽  
Rare Condition ◽  
Aplasia Cutis Congenita ◽  
Benign Condition ◽  
Bullous Lesion ◽  
Atrophic Scar ◽  
Clinical Subtype ◽  
Aplasia Cutis ◽  
Rule Out

Introduction. Aplasia cutis congenita (ACC) is a rare condition characterized by the focal absence of skin, and sometimes other underlying structures at birth. It may occur as an isolated defect or associated with other anomalies and defects. Bullous ACC (BACC) is a clinical subtype of the condition with few cases reported in the literature. It presents as a bullous lesion at birth which gradually transforms into an atrophic scar covered by a thin epithelial membrane. It is considered as cutaneous sign of possible neural tube dysraphism. Some cases present with a dark hair around the lesion (the hair collar sign), which can be even more indicative of neural tube defect. However, cases of BACC reported till today are inconclusive regarding this connection. Case report. We report a two cases of BACC of the scalp, in one patient associated with hair collar sign without neural tube defects and the other with hemangioma and we give a brief review of the selected literature. Conclusion. Bullous or membranous aplasia cutis congenita is benign condition, but may represent as a cutaneous marker of occult neural tube defect. Recognising the condition is important in order to rule out associated anomalies.

scholarly journals Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
V. Thadchanamoorthy ◽  
Kavinda Dayasiri ◽  
M. Thirukumar ◽  
N. Thamilvannan ◽  
S. H. Chandraratne
Keyword(s):  
Rare Condition ◽  
The Body ◽  
Sri Lankan ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Underlying Causes ◽  
Cutis Aplasia ◽  
Contracture Formation ◽  
Type V ◽  
Aplasia Cutis

Abstract Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study

2020 ◽  
Vol 39 (2) ◽  
pp. 83-91
Author(s):  
Mary Whalen
Keyword(s):  
Chromosomal Abnormalities ◽  
Rare Condition ◽  
Trisomy 13 ◽  
Aplasia Cutis Congenita ◽  
Live Births ◽  
Patau Syndrome ◽  
Males And Females ◽  
Aplasia Cutis

Aplasia cutis congenita (ACC) is a rare condition that presents at birth as an absence of skin that does not usually involve underlying structures. Occurring in 3/10,000 live births, ACC is evenly distributed between males and females; the risk of ACC increases to 7 percent in consanguineous marriages. Up to 86 percent of lesions are found on the scalp in the midline vertex position. Lesions can also be found on the trunk and limbs, as with Adams-Oliver syndrome or accompanying epidermolysis bullosa. ACC is associated with chromosomal abnormalities and 35–50 percent of the time with trisomy 13 (Patau syndrome). This case study presents an infant with multiple ACC lesions of the scalp. The pathophysiology, treatment, potential long-term complications, and nursing considerations are discussed.

scholarly journals Aplasia Cutis Congenita. Case report and literature review

2019 ◽  
Vol 30 (3) ◽  
pp. 267-272
Author(s):  
Moysés Isaac Cohen ◽  
Jefferson Travessa Ribeiro ◽  
Cleinaldo De Almeida Costa ◽  
Fernando Luís Westphal
Keyword(s):  
Subcutaneous Tissue ◽  
Bone Lesion ◽  
Treatment Strategies ◽  
Rare Condition ◽  
Aplasia Cutis Congenita ◽  
Skull Defects ◽  
Increased Risk ◽  
Csf Leakage ◽  
Multiple Treatments ◽  
Aplasia Cutis

Aplasia Cutis Congenita (ACC) is a rare condition characterized by congenital absence of epidermis, dermis and, in some cases, like this one, subcutaneous tissue and bone. It usually involves the scalp vertex. The estimated incidence is 3 in 10,000 births resulting in a total number of 500 reported cases till nowadays. The lesion can occur on everybody surface, but scalp is the most affected region (70% of the cases). In about 20% of cases there is bone lesion. ACC can occur as an isolated defect or can be associated with a number of other congenitally anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised. Case presentation: We describe a child with ACC involving almost all skull, where it could be seen the brain only with arachnoid membrane. At presentation there was no Cerebral Spinal Fluid (CSF) leakage. And it was managed surgically. The child was operated on one time. It was covered with non-absorbable matrix and the skin was approached. Conclusion: There are multiple treatments for this condition. But there is no consensus on treatment strategies. Conservative treatment can be tried, especially when there is no bone lesion. The treatment must be individualized for each case.

scholarly journals Aplasia Cutis Congenita: A Case Report

2018 ◽  
Vol 10 (2) ◽  
pp. 182-186 ◽  
Author(s):  
Tahani Magliah ◽  
Faiza Alghamdi
Keyword(s):  
Case Report ◽  
Positive Family History ◽  
Rare Condition ◽  
Medical Intervention ◽  
Intracranial Extension ◽  
Congenital Defects ◽  
Anterior Fontanel ◽  
Aplasia Cutis Congenita ◽  
Scalp Lesion ◽  
Aplasia Cutis

Background: Aplasia cutis congenita is characterized by congenital focal absence of skin in a newborn. Case Report: A 45-day-old boy presented to the outpatient clinic of dermatology at King Abdul Aziz Medical City, Jeddah, Saudi Arabia, with a flat scalp lesion on the space of the anterior fontanel. There was a positive family history of such condition in his older brother’s scalp, which resolved spontaneously within 3 weeks after labor, without any medical intervention. There were no associated hemangiomata or other congenital defects in his body. The case was admitted to the hospital. Ultrasound of the head showed bullae over the anterior fontanel, well-defined complex cyst, and an isolated subcutaneous lesion, with no evidence of intracranial extension. The baby was started on intravenous infusion of vancomycin (67 mg in dextrose 5% in water) for 3 days, but no improvement occurred to the scalp cyst. The baby started to receive 15 g of 2% mupirocin ointment, topically three times daily. After 2 days, the scalp cyst gradually decreased in size and became dry within 1 week. Follow-up after 3 months showed that the scalp lesion completely healed, leaving a very small atrophic scar and no further management of the lesion was needed. Conclusions: Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. Its management depends on its pattern, location, underlying causes, and associated anomalies.

scholarly journals Aplasia cutis congenita

2019 ◽  
Vol 5 (3) ◽  
pp. 659
Author(s):  
Chinmai Yerram ◽  
Krishna Rajesh Kilaru ◽  
Anusha Gogula ◽  
Peram Karunakar
Keyword(s):  
Blood Flow ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Congenital Disorder ◽  
Underlying Structure ◽  
Aplasia Cutis Congenita ◽  
Contributory Factors ◽  
Limb Defect ◽  
Aplasia Cutis

<p>Aplasia cutis congenita (ACC) is a rare condition in which there is congenital focal absence of skin with or without absence of underlying structures such as bone. Consanguinity may play a role. The cause of this condition is unclear and appears to be multifactorial; contributory factors may include teratogens, genes, trauma and compromised blood flow to the skin. Various expressions of Adams Oliver syndrome (AOS) have also been reported which is a rare autosomal dominant congenital disorder characterized by absence of skin and or underlying structure over scalp along with transverse limb defect. It was first described by Adam and Oliver in 1945.</p>

scholarly journals Aplasia cutis congenita: Two cases of non-scalp lesions

2009 ◽  
Vol 42 (02) ◽  
pp. 261-264 ◽  
Author(s):  
Tarek A. Abulezz ◽  
Mahmoud A. Shalkamy
Keyword(s):  
Specific Treatment ◽  
Rare Condition ◽  
Lower Limbs ◽  
Familial Occurrence ◽  
Review Of The Literature ◽  
Aplasia Cutis Congenita ◽  
Subcutaneous Tissues ◽  
Scalp Lesions ◽  
Aplasia Cutis

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.

scholarly journals A Neonate with Aplasia Cutis Congenita Type VI with Junctional Epidermolysis Bullosa: A Very Rare Condition

2016 ◽  
Vol 24 (3) ◽  
pp. 96-98
Author(s):  
Deepak Sharma ◽  
Sachin Lamba ◽  
Anshul Maheshwari ◽  
Sweta Shastri
Keyword(s):  
Epidermolysis Bullosa ◽  
Rare Condition ◽  
Aplasia Cutis Congenita ◽  
Junctional Epidermolysis Bullosa ◽  
Aplasia Cutis

Letter: Emendation to "bitemporal aplasia cutis congenita"

1974 ◽  
Vol 110 (4) ◽  
pp. 636b-636 ◽  
Author(s):  
R. I. Rudolph
Keyword(s):  
Aplasia Cutis Congenita ◽  
Aplasia Cutis

B12 Level May Predict Neural Tube Defect Risk

2009 ◽  
Vol 39 (6) ◽  
pp. 20
Author(s):  
ELIZABETH MECHCATIE
Keyword(s):  
Neural Tube ◽  
Neural Tube Defect

A Case of Aplasia Cutis Congenita Born with a Papyraceous Fetus

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