Cases Of Aplasia Cutis Congenita Research Articles

Congenital absence of the skin: a case series report

BackgroundExtracranial congenital skin defects, defined as aplasia cutis congenita (ACC), are a rare clinical entity. The form of presentation varies among patients according to the causal agent and the point during pregnancy at which the defect occurs. We present a series of cases of noncranial ACC, analysing its possible etiopathogenesis and the evolution of the lesions.Materials and methodsThis is a retrospective review of cases of extracranial ACC at a tertiary hospital.Case presentationPatient 1 is a full-term newborn of a monochorionic diamniotic gestation with the death of one foetus at 14 weeks of gestational age. Physical examination revealed two skin defects located on the posterior aspect of both thoraco-abdominal flanks. Patient 2 is a full-term newborn presenting with an ulcer on the nasal tip and cephalic extension on a follow-up pregnancy ultrasound. Patient 3 is a full-term newborn of a monochorionic diamniotic gestation with twin feticide due to encephalocele, presenting an ulcer on the lateral aspect of the proximal third of her right leg. The gestation associates severe oligohydramnios due to premature rupture of the membranes and breech presentation. Patient 4 is a full-term newborn with an ulcer on the left antecubital fossa with no relevant gestational history.ConclusionThe analysis of the obstetric history and the clinical presentation of the lesions helps to guide the aetiopathogenic diagnosis of congenital skin defects. The increased intracompartment pressure in the limbs is related to the increased severity of skin lesions and musculoskeletal and nerve involvement. Conservative treatment is related to a good prognosis for the lesions.

APLASIA CUTIS CONGENITA – A CASE SERIES OF VARIED PRESENTATIONS

Aplasia cutis congenita (ACC) belongs to a heterogeneous group of disorder, characterised by localised absence of skin and in some cases subcutaneous tissues, involving multiple possible body locations. The most common site is the scalp (70%), however any skin site can be affected including the trunk and the extremities . Herein we report a series of 4 cases of aplasia cutis congenita with varied cutaneous manifestations ranging from absence of epidermis to deeper defects extending upto the dermis and subcutaneous tissue. Our rst case presented to us with congenital absence of skin with ulceration and eschar formation of extremities, buttocks and bullae formation over hands and lower back. Clinicopathological diagnosis was made to be aplasia cutis congenita associated with epidermolysis bullosa (Bart’s syndrome). The second case presented with a single, well dened, rhomboid shaped deep ulceration with overlying eschar formation over the vertex extending upto the right parietal region of scalp, diagnosed to be a case of Type 2 Aplasia cutis congenita - Adams-Oliver syndrome. Our third case was a supercial variant of aplasia cutis congenita with linear , erythematous, blanchable atrophied parchment like scar on the back, without any underlying bony deformity. The last was a sporadic case of bitemporal aplasia cutis congenita with thinning of skin over bilateral temporal areas with overlying telangiectasia.

Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement.

Specific clinical features of aplasia cutis congenita may indicate the presence of underlying cranial or cerebrovascular defects, allowing for early recognition and intervention. Most information about aplasia cutis congenita exists as individual case reports, with few large-scale studies. We conducted a 7-year retrospective chart review of 90 cases of aplasia cutis congenita and identified clinical characteristics including morphology, number of lesions, anatomic location, presence of hair collar sign, associated cutaneous features, histology, and imaging results. The anatomic location of the lesion (vertex, midline) (P = .01), presence of hair collar sign (P < .001), vascular stains (P < .001), and nodules (P = .007) were found to be strong clinical indicators of skull or cerebrovascular involvement.

Aplasia Cutis Congenita: A Simple and Safe Management

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.

Aplasie cutanée congénitale et antithyroïdiens de synthèse au cours de la grossesse : série de cas et revue de la littérature

Aplasia cutis congenita (ACC) following in utero exposure to antithyroid drugs such as methimazole/carbimazole (MTZ/CMZ) has been reported since 1972. Though currently included in MTZ/CMZ embryopathy, it remains poorly characterized and is little discussed. Having seen two cases within a short period of time, we carried out a literature review and searched the French pharmacovigilance database for notification of cases. We performed a search of the literature in the Medline database using the following keywords: "aplasia cutis congenita", "birth skin defects", "pregnancy" and "drug". All articles reporting cases of ACC following in utero exposure to antithyroid drugs were included. All cases of ACC under antithyroid drugs reported to French pharmacovigilance centres were analysed. Three hundred and sixty-eight articles were retrieved and 31were analysed, including a further 4, mentioned in selected articles, giving 59cases of ACC under MTZ/CMZ reported in the literature and having an intrinsic accountability score of plausible or dubious. ACC was typically isolated, single, small in size, and localised on the median scalp area. Exposure occurred in the first weeks of gestation. There were 6familial cases involving siblings. Ten ACC and MTZ/CMZ cases were reported to pharmacovigilance centres in France. Practitioners should be aware of ACC following MTZ/CMZ exposure in utero, whether it occurs in isolation or not. It is likely a teratogenic effect of MTZ/CMZ enhanced by a genetic predisposition.

Surgical management of aplasia cutis congenita

Abstract Introduction Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC. Materials and methods Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013. Results There were a total of 22 cases of ACC with lesions ranging from 1 cm (0.79 cm2) to 14 cm (153.94 cm2). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC. Conclusions ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4 cm (>12.6 cm2) as it prevents the risk of fatal complications.

Aplasia cutis congenita: report of 22 cases.

Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear. To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series. We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC. We enrolled 22 cases (14 girls and eight boys) of ACC during 18 years. The mean age at diagnosis was 5.7 years. Sixteen ACC involved the scalp, five the trunk, and one the left buttock. ACC was oval-shaped in 20 cases, triangular in one case, and linear in one case. The mean size was 4 cm. ACC was associated with bone defects in two cases, various malformations in eight (37.1%), and with syndromic malformation in three (Adams-Olivier syndrome: two cases; Goltz syndrome: one case). Conservative treatment consisting of wound dressing with vaseline was indicated in six cases. Bone reconstruction was performed in two cases. Regular follow-up and no treatment was recommended in 14 cases. Our study emphasizes the frequent association of ACC with malformations (37.1%) and bone defects (9%).

Aplasia cutis congenita: clinical management and a new classification system.

Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life threatening. Its management and the timing of surgery remain controversial because of the risks involved with both conservative and surgical approaches. Most literature is based on case reports and very small case series because of the rarity of the disorder. The authors present their experience treating newborns with aplasia cutis congenita and its progressive development. Using a hospital registry, the authors found all cases of newborns diagnosed with aplasia cutis congenita during the years 2000 to 2013. Clinical data were gathered from hospital and clinic records, and photographs were obtained by the plastic surgery team. Twenty-two cases of aplasia cutis congenita were included in this study: 21 on the scalp and one on the foot heel. Eleven patients were male and 11 were female. Defect size ranged from 1 to 150 cm (average, 29 cm). Three patients died as a result of uncontrollable hemorrhage. Six patients underwent emergency coverage, one with allografts later replaced by split-thickness skin grafts and five by immediate split-thickness skin grafting. All of the patients who underwent immediate skin grafting survived and thrived. The authors emphasize the role of emergency split-thickness skin grafting in the treatment of large aplasia cutis congenita or ones with large veins or sagittal sinus exposure. The authors also present a practical, treatment-oriented classification that could assist physicians in estimating the severity and therefore prognosis of the disease and offer a treatment guideline. Therapeutic, IV.

Aplasia cutis congenita with two completely different presentations

Aplasia cutis congenita is a rare disorder, which presents with congenital absence of skin. Besides isolated presentation, it may manifest with other developmental malformation of cardiovascular, gastrointestinal, genitourinary and central nervous systems, and malformation syndromes such as chromosomal abnormalities, Adams-Oliver syndrome, Bart's syndrome, and Johanson-Bilzzard syndrome. Here, we present two cases of aplasia cutis congenita, which represent two different types of the disease. The first case presented as non-syndromic aplasia cutis congenita of scalp, and the other case presented as a part of Bart's syndrome.

Management of Aplasia Cutis Congenita of the Scalp

Aplasia cutis congenita (ACC) is a rare condition commonly affecting the scalp in which there is a focal deficiency of cutaneous tissues of varying severity ranging from an absence of skin through to full thickness defects involving deeper elements such as bone and dura. Lesions of the scalp can be associated with complications including infection, hemorrhage, thrombosis, and seizures. Opinions in the current literature regarding management of this condition are varied with both conservative and surgical management advocated. Conservative treatment consists of regular wound dressings and systemic antibiotics, while surgical management commonly involves skin grafting and local flaps. A retrospective case review was performed to audit the outcomes of patients with ACC of the scalp managed at the Women's and Children's Hospital (WCH) in Adelaide, Australia from 2002 to 2012. Cases were identified from admission coding diagnoses and data was retrieved from patient case notes. Seventeen cases of ACC were identified. The most common location involved was the scalp vertex. Thirteen patients were managed conservatively and 4 had primary surgical intervention. Of the cases that were managed with primary surgery, 2 had complications. None of the conservatively managed patients had complications in the acute setting. At the WCH, we advocate adopting a conservative approach to management of ACC of the scalp. Defects can be successfully managed with a combination of regular dressings and systemic antibiotics. Regular wound monitoring is essential to detect any complications early to instigate appropriate treatment and determine the need for emergency surgical management.

Aplasia Cutis Congenita and Other Anomalies Associated with Methimazole Exposure During Pregnancy

Aplasia cutis congenita (ACC) is a congenital defect consisting of a circumscribed absence of skin that usually involves the scalp. The etiology is uncertain, and several teratogenic agents such as methimazole have been involved. We report two cases of ACC and other anomalies in newborns exposed to methimazole during pregnancy.

Systemic aplasia cutis congenita: A case report and review of the literature

Aplasia cutis congenita (ACC) belongs to a heterogeneous group of conditions characterized by a congenital absence of skin, usually on the vertex of the scalp. It can occur as an isolated defect or can be associated with a number of other congenital anomalies. Two cases of systemic ACC of a more severe and extensive type were recently reported. Here, we describe the third case of systemic ACC and review the available literature. A female infant was born with an extensive defect of the skin, a skull defect, imperforate hymen, and some other anomalies. She died soon after birth probably due to asphyxia and dehydration. We also compared the pathologic findings of the current case with those of the other two previously reported cases. This case suggests that systemic ACC might be recognized as a new syndrome. A limitation is that there is only 1 case, and it is difficult to gain a deeper understanding of its etiology and diagnostic criteria.

Aplasia Cutis Congenita and Dysmorphic Syndrome After Antithyroid Therapy During Pregnancy

Aplasia cutis congenita (ACC) is alleged to be a side effect of antithyroid therapy during pregnancy. This occurrence is uncommon. Only 24 cases have been reported in the literature. In France, there has been no report by the National Center of Pharmacovigilance since 1985. We report a 39-year-old woman with no significant past history in whom Graves disease developed without eye symptoms. She was using methimazole 60 mg daily for 3 months, followed-up by propylthiouracil until delivery. At birth, the newborn had a scalp defect on the vertex, measuring 7- × 2-cm, transient hypothyroidism, and a dysmorphic syndrome (flat face, low-set ears, upper lip retraction, xiphoid funnel, finger-like claws, and low-set fifth finger). At age 1 year, the aplasia cutis was treated surgically. Aplasia cutis is a rare disorder, sometimes associated with other malformations. The mothers with hyperthyroidism who delivered children with reported cases of ACC have used either carbimazole or its active metabolite, methimazole, during early pregnancy. The relationship between methimazole or carbimazole therapy during pregnancy and ACC in the newborn remains to be proven. Nevertheless, to the authors’ knowledge, no case has occurred in which the mother has used only propylthiouracil. Therefore, consideration should be given to the exclusive use of propylthiouracil in pregnancy.

Aplasia cutis congenita: new evidence supporting the amniotic band theory of origin

We present two cases of aplasia cutis congenita (ACC). The scalp alone was involved in the first baby, who died from massive sagittal sinus hemorrhage. The second neonate presented with circumferential constrictive trunk ulcers and healed scars on the thighs, axillae, and temples in addition to the scalp lesion. This baby was successfully treated with local flap cover of the scalp and trunk ulcers. A biopsy from the edge of the scalp ulcer revealed a dermoid cyst. This provides new evidence in support of the amniotic band theory of origin of ACC.

Aplasia cutis congenita of the Scalp: Issues in Its Management

Two cases of aplasia cutis congenita with associated bony defects are presented to highlight the dangers of delayed coverage of exposed dura. Management of one case was complicated by repeated local and systemic sepsis and the other by repeated, life-threatening hemorrhage. Early, definitive coverage of these defects using full thickness skin flaps avoids the risks of hemorrhage and should, if the recipient bed is clean, lessen the incidence of complicating sepsis.

Aplasia Cutis Congenita with Dystrophic Nail Changes

Two cases of aplasia cutis congenita are presented. The first case was in a child with a localized defect on her scalp. The second case was in an adult male who had extensive symmetrical involvement of his trunk and thighs, two lesions on the scalp and dystrophic changes in his nails. Nail dystrophy associated with aplasia cutis congenita has been described only once previously.

CONGENITAL SCALP DEFECTS IN FATHER AND SON.

FAMILIAL OCCURRENCE of congenital scalp defects was reported by William Campbell in 1826. He described two cases of aplasia cutis congenita of the scalp. 1 Many subsequent examples of familial congenital scalp defects have been recorded. 1-7 A family in which both the father and the son had scalp defects is reported here. Report of a Case The propositus was the third born child of a 35-year-old mother and a 40-year-old father. The infant was delivered from a vertex presentation at 42 weeks gestation and weighed 11 lb 2 oz (5,040 gm) at birth. At delivery, the child had two small (1.5 cm in diameter) punched-out defects of the scalp (Fig 1). The borders were well demarcated and the bases were depressed and slightly roughened. No other abnormalities were found. Roentgenograms of the skull showed areas of thinned calvaria under the skin defects. No lytic lesion was apparent. The child