Síndrome de Bart: aplasia cutis congénita y epidermólisis bullosa / Bart's syndrome: aplasia cutis congenita and epidermolysis bullosa

La aplasia cutis congénita, también conocida como síndrome de Bart, ha sido asociada con todos los subtipos principales de epidermólisis bullosa. Esta enfermedad afecta a 1 por cada 10 000 recién nacidos vivos; solo se han descrito 500 casos en la literatura médica. Se caracteriza por afectar un miembro inferior con patrón en forma de S y presentar lesiones de epidermólisis bullosa en cualquier otra parte del cuerpo. Se presenta el caso de una neonata con las características clínicas mencionadas, hospitalizada en el Servicio de Neonatología del Hospital Pediátrico Universitario «José Luis Miranda». Este diagnóstico es principalmente clínico y se basa en la evidencia de áreas de pérdida cutánea con predominio en miembros inferiores, lesiones ampollares en piel y mucosas, y deformidades ungueales. Su pronóstico puede ser fatal. Este caso reviste gran interés por su baja incidencia; su diagnóstico precoz contribuyó a evitar complicaciones.

Aplasia cutis congenita, also known as Bart's syndrome, has been associated with all the major epidermolysis bullosa subtypes. This disease affects 1 in 10, 000 live births; only 500 cases have been described in medical literature. It is characterized by affecting a lower limb with an S-shaped pattern and presenting epidermolysis bullosa lesions in any other part of the body. We present a female neonate with the aforementioned clinical features, who was hospitalized in the Neonatology service at "José Luis Miranda" Pediatric University Hospital. This diagnosis is mainly clinical and is based on evidence of areas of skin loss predominantly on the lower limbs, bullous lesions on the skin and mucous membranes and nail deformities. Its prognosis can be fatal. This case is of great interest due to its low incidence; its early diagnosis helped to avoid complications.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

Aplasia cutis: revisão de literatura e relato de caso / Aplasia cutis: literature review and case report

Aplasia cútis congênita (ACC) é uma doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e se apresenta ao nascimento como uma ferida que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Apresentamos dois casos de recém-nascidos com aplasia cútis congênita no couro cabeludo que foram tratados no Centro de Atendimento Integral ao Fissurado Lábio Palatal de Curitiba- Paraná. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente. O propósito do presente trabalho é realizar uma revisão da literatura sobre os aspectos epidemiológicos, diagnóstico e formas de tratamento da ACC de couro cabeludo.

Aplasia cutis congenital (ACC) is a rare disease characterized by the absence of skin formation. Usually occurs on the scalp, in the midline, and presents at birth as a wound that can reach different depths and can involve the periosteum, skull and dura. We present two cases of newborns with congenital cutis aplasia on the scalp that were treated at the Center for Integral Assistance of Cleft Lip and Palate Curitiba-Paraná. Due to the rarity of ACC and the small number of patients in published series in the literature, standardization of treatment is still a challenge. The purpose of this paper is to review the literature on the epidemiology, diagnosis and treatment modalities of ACC of the scalp.

First Case Report of an Infant with Aplasia Cutis Congenita of Scalp and Myelomeningocele / Primeiro relato de caso de aplasia cutis congenita e mielomeningocele

Aplasia cutis congenita of scalp (ACCS) is a rare developmental anomaly. It has presented in children who have many concomitant anomalies. Large, deep defects can complicate by repeat local and systemic sepsis and life-threatening hemorrhage. In this paper, we describe, to the best of our knowledge, the first case of a newborn boy with ACCS and myelomeningocele whose evolution with hydrocephalus has brought us a serious paradigm of using a shunt in the presence of tissue expanders. The treatment of hydrocephalus with third ventriculostomy associated with good aesthetic final result show an alternative to the use of shunt in this scenario, even in infants of young age. We review here therapeutic strategies and challenges with this disease.

A aplasia cútis congênita do couro cabeludo (ACC) é uma rara anomalia do desenvol- vimento. Tem sido observada em pacientes com outras deformidades associadas. Formas extensas e profundas podem evoluir com septicemia e hemorragia grave. Neste trabalho descrevemos um caso inédito de neonato do sexo masculino com ACC e espinha bífida na qual a evolução com hidrocefalia nos trouxe um dilema em usar shunt na presença de expansores teciduais. O tratamento com terceiroventriculostomia endoscópica associado a um bom resultado estético revela uma alternativa ao uso de derivações neste cenário, mesmo em lactentes. Revisamos aqui as opções terapêuticas e desafios encontrados nesta patologia.

An Unusual Association of Aplasia Cutis Congenita with Twin Pregnancy and Maternal Varicella.

We report an unusual case of aplasia cutis congenita associated with twin pregnancy and history of maternal varicella in first trimester, occurring over the extremity of one of the twins while other twin was perfectly normal.

Aplasia cutis congénita: serie de casos de ubicación y asociación particular / Aplasia cutis congenita: a case series

La aplasia cutis congénita (ACC) es un trastorno poco frecuente del desarrollo cutáneo, presentándose la mayoría como defectos aislados, pero pueden asociarse a otras malformaciones y síndromes genéticos. En relación a un caso de ACC extensa asociada a Síndrome de Adams-Oliver (SAO) se analizaron 10 casos de ACC con ubicación especial o asociadas a otras malformaciones diagnosticadas en forma clínica o por ecografía. Se confeccionó una tabla clasificando cada caso según Frieden, describiendo la ubicación de la aplasia y las asociaciones encontradas.

Aplasia cutis congenita (ACC) is a rare disorder of skin development, appearing mostly as isolated defects, but may be associated with other malformations and genetic syndromes. In relation to a case of extensive associated ACC Adams-Oliver Syndrome (AOS) were analyzed 10 cases of ACC with special location or associated with other malformations diagnosed clinically or by ultrasound. We made a table classifying each case as Frieden`s classification, describing the location of the aplasia and the associations found.

Aplasia Cutis Congenita in Two Siblings / 대한피부과학회지

Aplasia cutis congenita is a rare congenital condition, characterized by localized absence of epidermis, dermis, and in some cases, subcutaneous tissues. About 80% of the patients with aplasia cutis congenita have involvement of the scalp. Aplasia cutis congenita, not involving the scalp, appears to be linear lesions with a symmetrical pattern of distribution on the trunk and limbs. Most reported cases are sporadic, but a few cases have been reported to have familial occurrence. There is no unifying theory for the pathogenesis and etiology. Herein, we report a 1-day-old female infant and her 4-year-old sister with unilateral aplasia cutis congenita on their legs. No similar conditions and other associated congenital anomalies were found in their family. There was no sign of teratogenic causes, such as intrauterine infections, drugs or chemical agents.

Aplasia Cutis Congenita of the Scalp Accompanied by Limb Hypoplasia: Adamson-Oliver Syndrome / 대한피부과학회지

Aplasia cutis congenita (ACC) is an uncommon condition which is characterized by congenital, localized or widespread absence of skin or scar formation. Lesions can be multiple and may occur on any body surface, although they are mostly seen on the scalp as a solitary lesion. ACC is most often a benign isolated defect; but it can be associated with other physical anomalies or malformation syndromes. Adams-Oliver syndrome is a distinct subtype in which distal limb reduction is found in association with a solitary scalp defect. There is no single underlying cause of ACC; it may reflect a disruption of intrauterine skin development. A 25 day-old boy was referred to our clinic with a thick hemorrhagic crust, and a surrounding hairless atrophic scar on the midline over the skull vertex. He also had hypoplasia of the left 2nd to 5th toes since birth. The rest of the physical examination as well as an ultrasound examination of the brain were normal. Herein we report a rare case of ACC of the scalp accompanied by distal limb hypoplasia, Adamson-Oliver syndrome.

Clinical Course of Aplasia Cutis Congenita

PURPOSE: Aplasia cutis congenita (ACC) is a rare condition characterized by a localized absence of skin, and it can be associated with other congenital anomalies. This study was done to evaluate clinical course and outcome of ACC in neonates. METHODS: Based on the medical records, we retrospectively reviewed 8 neonates diagnosed with ACC at Cheil General Hospital and Women's Health Care Center, Kwandong university College of Medicine from January 2004 to December 2010. We classified ACC by Frieden's classification and analyzed the patient's demographic data, clinical course and outcome. RESULTS: Among 8 patients with ACC, 5 patients were classified to group 1; scalp ACC without anomalies and 3 patients to group 7; ACC localized to extremities without blistering. Defect size was from 0.3 cm to 1.5 cm, limited in the superficial skin or subcutaneous tissue without associated anomalies. Defects were healed under conservative treatment with mild scar formation within four months. CONCLUSION: ACC could be diagnosed easily through physical examination in neonates. All cases showed good clinical outcome without surgical treatment. However because of small numbers and small sized defects of cases, further study including lesions of large size is needed.

Aplasia cutis congénita tipo I: aporte de un caso / Aplasia cutis congenita: a case report

La Aplasia Cutis Congénita, es un grupo heterogéneo de alteraciones que consisten en la falta congénita localizada o extensa, de piel, que puede acompañarse de ausencia de estructuras subyacentes. Su apariencia clínica es variable y su origen es multifactorial. Presentamos el caso de un recién nacido con Aplasia Cutis Congénita, sin antecedentes familiares de esta enfermedad ni historia de uso materno de drogas, en quien no se constataron hallazgos extracutáneos.

Congenital aplasia cutis, is a heterogeneous group of disorders that involve the congenital absence, localized or extensive, of the skin, which may be accompanied by the absence of underlying structures. Its clinical appareance is variable with a multifactorial origin. We report the case of a newborn with Congenital Aplasia Cutis with no family history of the disease or history of maternal drug abuse, in whom extracutaneous findings were not found.

A Case of Aplasia Cutis Congenita in Two Siblings / 대한피부과학회지

Aplasia cutis congenita (ACC) is a rare congenital disorder, which was first described by Cordon in 1767. It is characterized by a defect of epidermis, dermis, subcutaneous tissues and sometimes even bone, and occurs predominantly on the scalp. Non-scalp locations are involved in 15% of all cases and are often bilaterally symmetrical. Most cases of ACC appear sporadically. Intrauterine trauma, vascular accidents or genetic factors are postulated as initial steps in the pathogenesis. However, the aetiology of this condition remains unknown. Familial cases have been reported and are suggestive of either an autosomal dominant or autosomal recessive inheritance with variable expression. We herein report on a 10-day-old female infant and her 8-year-old sister with aplasia cutis congenita on their legs.

A Case of Adams-Oliver Syndrome

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer the prognosis becomes. In the relevant literature on this topic, it is somewhat unclear as to whether the prognosis of AOS without lethal anomalies alters the lifespan. We report a case of AOS with typical skin defects only, and no internal organ anomalies.

Aplasia cutis asociada a infartos placentarios / Aplasia cutis associated with placental infarcts

La aplasia cutis congénita (ACC) se define como la ausencia congénita parcial o total de piel que puede presentarse en forma aislada o asociada a otras anomalías o síndromes. Se clasifica en nueve grupos de acuerdo al sitio anatómico donde asienta, a la configuración que adopta, a las anomalías asociadas y etiologías probables. Presentamos un recién nacido, pretérmino extremo, con una ulceración de gran extensión, de forma estelar ubicada en la región lumbosacra. El estudio anatomopatológico de la placenta informó microinfartos isquémicos múltiples. Habiendo descartado otras causas (farmacológicas, hereditarias, tóxicas e infecciosas) así como la ausencia de anomalías del desarrollo, se llegó al diagnóstico de ACC grupo 5, relacionada con microinfartos placentarios. La ACC es una patología poco frecuente y la importancia de su diagnóstico radica en descartar anomalías del desarrollo u otras asociaciones subyacentes.

Congenital aplasia cutis (CAC) is the complete or partial absence of skin that might present alone or associated with others abnormalities or syndromes. It is classified in nine groups, according to the anatomic site where it settles, the lesions appearance, the presence or absence of associated malformations and the probable aetiology. We present an extremely preterm new born with extensive and stellate ulceration, located in the lumbosacral area. The placenta histological findings revealed multiple ischemic infarcts. After ruling out pharmacologic, toxic, infectious causes, or family history, and without evidence of malformation syndromes, we arrived to the diagnose group 5 CAC, associated with placental microinfarctions. Aplasia cutis is a rare clinical finding and it is important to make the correct diagnosis due to the possible associated abnormalities and syndromes than we can found.

A Case of Bart's Syndrome / 대한피부과학회지

Aplasia cutis congenita is a rare congenital skin defect that presents with sharply outlined ulcerations. The most common site of this disease is the scalp, yet when other areas of the body are involved, there is higher incidence of concomitant congenital diseases or malformations. Bart's syndrome is a rare inherited condition with congenital skin defects that are associated with epidermolysis bullosa. An infant presented with congenital skin defects on the leg, and the infant had recurrent bullous skin lesions on the both hands, feet, wrists and ankles. The skin defect caused only small scar formation and no handicap regarding function and appearance, yet continuously new bullous lesion developed and healed on the both distal extremities. He was diagnosed as suffering with epidermolysis bullosa with the histological findings of epidermal cleavage and negative direct immunofluorescence findings. Herein, we report on a case of Bart's syndrome that displayed aplasia cutis congenita over the lower extremities and skin blistering.

Aplasia cutis congenita secondary to maternal exposureto carbimazole during pregnancy. A case report

Aplasia cutis congenita (ACC) is a rare anomaly presenting with absence of skin. It was first reported by Cordon in 1767. About 70% of cases manifests as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. The lesions are typically well demarcated, non-inflamed, and they range in size from 0.5cm to 10cm. ACC may be circular, oval, linear, or stellate in configuration. At birth, lesions may appear as scars or ulcers1. They may appear as parchment-like scars with alopecia. Most lesions occur on the scalp vertex just lateral to the midline, but defects may also occur on the face, the trunk, or the limbs, sometimes symmetrically. The depth may involve only the epidermis and the upper dermis, resulting in minimal alopecic scarring, or the defect may extend to the deep dermis, the subcutaneous tissue, or rarely the periosteum, the skull, and the dura. ACC is most often a benign isolated defect, but it can be associated with other physical anomalies or malformation syndromes. Frieden classified them into 9 groups based on the number and presence or absence of other anomalies1. Nearly 86 percent belong to the first group with a solitary lesion. We report a case of Aplasia Cutis Congenita secondary to maternal exposure to carbimazole during pregnancy.

Aplasia Cutis Congenita in a Baby born to Hyperthyroid Mother Treated with Methimazole During Pregnancy: A Case Report / 대한소아내분비학회지

Aplasia cutis congenita is a rare congenital anomaly characterized by focal absence of skin at birth. It most commonly manifests as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. Frieden classified aplasia cutis congenita into nine types according to the associated anomalies, but a unifying theory has not been identified to explain the etiology of this disease. We report a case of a newborn with isolated aplasia cutis congenita on the scalp at birth, whose mother was treated with methimazole up to the 22 weeks of gestation due to hyperthyroidism.

A Case of Aplasia Cutis Congenita, Type VII

Aplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of skin on the extensor surface of the right lower leg. There was no associated malformation or skin disease such as blistering or nail abnormailty. According to the classification outlined by Frieden, the condition was diagnosed as type VII aplasia cutis congenita. The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation.

Treatment of Aplasia Cuti Congenita Using Allogenic Dermal matrix and Cultured Epithelial Autograft : A Case Report

PURPOSE: The purpose of this study is to document the surgical methods used in infants with aplasia cutis congenita treated with allogenic dermal matrix and cultured epithelial autografts. METHODS: The large defects in both lower legs were replaced with allogenic dermal matrix to avoid the postoperative hypertrophic scar contracture and a full- thickness skin biopsy was taken from right groin area simultaneously. We sent the specimen to a commercial laboratory for culture and obtained cultured epithelial autografts(Holoderm(R)) after 2 weeks, placed it over the allogenic dermal matrix. RESULTS: The skin-defected area were nearly epithelialized after 2 weeks and there were no significant problem on during 6 months follow-up. CONCLUSION: The surgical method using allogenic dermal matrix and cultured epithelial autograft provided an excellent coverage of large skin defects of infant with aplasia cutis congenita.

A Case of Aplasia Cutis Congenita after Methimazole Exposure during Pregnancy / 대한피부과학회지

Aplasia cutis congenita is a rare congenital defect in which localized or widespread areas of the skin are singly or multiply absent or already scarred at birth. Multiple etiologies have been suggested for the cause, however, methimazole exposure during pregnancy has rarely been postulated as the cause of aplasia cutis congenita. We report a case of an infant with scalp aplasia cutis congenita, whose thyrotoxic mother was treated with methimazole during the first 9 weeks of gestation. The casual relationship between the drug and the skin defect is still a matter of debate, therefore, propylthiouracil treatment appears to be preferable to methimazole during the fertile period.

Conservative Treatment with Silicone Gel Sheet of Aplasia Cutis Congenita: Case Reports

Aplasia cutis congenita represents a congenital absence of all skin layers, and it may occasionally extend through the bone and dura of the skull. Since the first report by Cordon in 1767, over 500 cases have been reported. Eighty percents of all cases are found in the scalp, and 20 percents of these cases involve extremities and trunk and are often bilaterally symmetrical. Histologic examination demonstrates a layer of thin dermal collagen without overlying epithelium or adnexal structures. It has several clinical groups classified by the location and pattern of the skin defect, associated anomalies and the mode of inheritance. Its management is controversial and may be conservative treatment or the surgical option to provide definite skin cover. In 1990, Wexler suggested that conservative treatment using Silvadene was the preferred option. We would like to present 2 cases in which silicone gel sheet as a conservative treatment modality led to favorable outcomes. It was invented for the treatment of hypertrophic scar but has been used and studied for the open wounds in recent years. The use of silicone gel sheet on congenital skin defect has many advantages: the danger of infection is minimized due to frequent washing; prolonged hospitalization is prevented; pain or bleeding is minimized for dressing changes because it doesn't adhere to the wound; and it can be used after the epithelization for the prevention of hypertrophic scar.