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Distal Limb Defects and Aplasia Cutis: Adams–Oliver Syndrome
Abstract
Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.
... The exact pathogenetic mechanism of SAO remains unknown, however, a vascular factor is strongly suspected due to the frequency of vascular manifestations observed, notably cutis marmoraeta and pulmonary and portal vascular anomalies [5]. Furthermore, the involvement of distal areas such as the vertex and the extremities could be explained by a stretching of small abnormal vessels at this level during the period of rapid embryonic growth [8]. ...
... Since its first description, it is currently recognized that ODS is a clinically heterogeneous condition in its expression (mild forms and severe forms) and in its possible association with other systemic or malformative abnormalities [5,9]. Classically, ODS is limited to damage to the head and extremities. ...
... Extremity involvement, present in 84% of cases, is often bilateral [10,3], asymmetric and affects the lower limbs more often than the upper limbs [3]. The latter can manifest as syndactyly, brachydactyly, oligodactyly, anonychia or onycodysplasia or even hemimelia [5,10]. OAS may be associated with congenital cutaneous aplasia affecting the abdomen and knee, supernumerary nipples, microphthalmia and stunted growth [5]. ...
Introduction: Adams-Oliver's syndrome (SAO) is a rare genetic condition characterized by the association of lumb anomalies and Aplasia cutis congenita in vertex, often accompanied by underlying ossification defect and vascular lesions. The objective through this new observation is to describe the clinical, radiological, therapeutic and evolutionary elements according to what was described up to there in the literature. Observation: Female newborn child, stemming from a pregnancy followed with normal obstetric ultrasounds. He presents a scalp agenesis, underlying cranial bone aplasia and toes hypoplasia with syndactyly. The association of these two major criteria allowed making the diagnosis of SAO. Moreover, she presents disjointed and large sagittal suture with left parietal bone borders hypoplasia. The notion of periventricular bleeding. The rest of the balance sheet deformation, namely the abdominal ultrasound and echocardiography was without anomalies. The newborn was sent in neurosurgery for restorative treatment, which will be planned at the age of 3 months. Discussion and Conclusion: This observation illustrates sporadic and not complicated SAO. The absence of complete gene mapping in SAO and therefore of any genetic counseling, prenatal morphological ultrasound, is making important in evolutionary terms of subsequent pregnancies.
... 6 It is occurring mainly on the top of the head but can occur anywhere on the body. 5 Based on the etiology and clinical presentation, Sybert classified ACC into six types. Frieden ranked ACC into nine classes based on the location of the skin defect, clinical symptoms, and genetic factors, as shown in Table 2. ...
... Although the literature reports that cranial defects can be rapidly regenerated, most scholars recommend repairing the skin along with the cranial defect for optimal results. [3][4][5]7,8 The surgical treatment complications are mainly due to general anesthesia for tracheal intubation of neonates and the inherent high risk of complex surgical operations. 9 With medical technology advancements, surgical complications are relatively low, and most of them can be effectively controlled. ...
Congenital skin dysplasia, especially isolated scalp defects, is difficult to detect prenatally. The prognosis for isolated congenital scalp defects is good. Treatment options include conservative treatment and surgery. The choice of treatment depends on the patient's individual circumstances. Congenital skin dysplasia, especially isolated scalp defects, is difficult to detect prenatally. The prognosis for isolated congenital scalp defects is good. Treatment options include conservative treatment and surgery. The choice of treatment depends on the patient's individual circumstances.
... The risks include anesthesia-related complications, intraoperative bleeding, postoperative infection, and flap necrosis [4] . Conservative treatment mostly consists of regular dressing changes to promote spontaneous epithelialization, and its risks include bleeding, prolonged healing time, and wound infection [5] . ...
... ACC was first reported by Gordon in 1767 and summarized by Campbell in 1826 [6] . It is occurring mainly on the top of the head but can occur anywhere on the body [5] . The cause of ACC is unknown. ...
This paper demonstrated two cases of Aplasia cutis congenita diagnosed after birth. No abnormalities were seen during the antenatal examination of the fetus during pregnancy. One case was treated surgically and the other conservatively, both with a good prognosis.
... Pathophysiology of ACC is not well studied and its exact pathogenesis is unknown. [11,22,30,35,36] However, there are multiple factors that are probably contributing to the development of ACC according to the literature: • Chromosomal abnormalities, [8,31] especially BMS1 [29] ; a recent study has also implicated the UBA2 gene and the SUMOylation pathway [27] • Trauma [28,53] • Amniotic irregularities [7] • Intrauterine complications, such as vascular accidents or infection [7,9,13,46,50] • Thrombosis, vascular lesions [7,9,15] • Teratogens: such as misoprostol, benzodiazepines, valproic acid cocaine, methotrexate, ACE inhibitors, methimasol. [18,35,39,40,44,50] The main pathophysiologic hypothesis about ACC is that the mechanism behind it lies in tension-induced disruption of the overlying skin occurring at 10-15 weeks of gestation when rapid brain growth occurs along with hair direction and patterning. ...
Background
Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital 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 Description
We describe two cases of ACC, involving a 4 × 3 cm defect managed conservatively and a larger 10 × 5 cm defect managed surgically with the use of a temporo-occipital scalp flap. Both cases had an excellent outcome.
Conclusions
Multiple treatment regimens exist for ACC, but there is no consensus on treatment strategies. Conservative treatment has been described and advocated, but many authors have emphasized the disadvantages of this treatment modality. Decision between conservative and surgical management must be individualized according to lesion size and location.
... In addition, phenotypic variability of this syndrome results in mild to severe defects. 2 Although the exact pathogenesis of AOS is unknown, the most popular theory is that a vascular disruption or impaired circulation occurs in watershed areas, a genetic defect causing a vasculopathy leading to variable phenotypes. This is further supported by the occurrence of vascular malformations, including congenital cutis marmorata telangiectatica and abnormal pulmonary and portal vasculature in association with AOS. ...
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS. Some of these lesions may be secondary to birth trauma (given the skull defect) whilst others have a watershed location, perhaps as further evidence of vascular disruption and decreased perfusion during critical periods of fetal brain development as the previously proposed pathogenesis of this syndrome.
... I read with interest the recent case report by Drs Renfree and Dell. 1 The specific limb and scalp defects observed in AdamseOliver syndrome (AOS) cover a wide range of clinical severity such that the disorder is often not diagnosed on first presentation. Elucidating the underlying molecular mechanisms is therefore critical to our understanding of the manifestation and progression of this disorder, in turn providing an opportunity for improved patient diagnosis and clinical management. ...
Aplasia cutis congenita (ACC) is a rare group of congenital disorders characterised by focal or widespread absence of skin, predominantly affecting the scalp. A Malay female infant was born at 37 weeks with extensive ACC, affecting 37% of total body surface area, including her scalp and trunk. There is no consensus on the management of ACC given the rarity and variable presentation. A multi-disciplinary team comprising neonatologists, paediatric dermatologists, plastic surgeons and medical laboratory scientists at the skin bank, employed a more aggressive surgical approach with the aim of avoiding potentially catastrophic morbidity, including sagittal sinus haemorrhage and brain herniation. Out of several surgical options, the team used a staged artificial dermal matrix (Integra) and cultured epithelial autograft application, followed by regular wound dressing, and eventually allowed the child to achieve complete epithelialisation of her trunk, and most of scalp before she was discharged from hospital.
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.
Background:
When a child is born with Aplasia cutis congenita (ACC), it is important for the surgeon to decide promptly whether to perform early surgical intervention, or proceed with conservative care. Several patients of ACC have been reported in which various treatments have attempted. However, the criteria of treatment remain controversial. In this study, the authors present an algorithm and the literature review to assist with objective decisions during ACC management.
Methods:
A total of 4 cases of infants born with ACC were referred to our department between January 2017 and April 2019. Conservative care was to be considered a first choice of management.
Results:
The ACC lesions were presented in the scalp vertex area in all 4 infants with the intact dura mater. There was no large vein exposure or sagittal sinus exposure in all infants. All 4 infants were managed with conservative care, which immediately resulted in complete healing of the defects without any complications.
Conclusions:
Rapid decision-making is required whether or not the patient requires emergency surgical coverage. Even extensive defects may be healed by conservative care alone, if the dura mater is intact and accompanying large vein or sagittal sinus exposure is not identified.
Adams-Oliver syndrome (AOS) is a congenital condition characterized by congenital aplasia cutis and transverse limb defects. Herein we report a case of an infant with severe intra-uterine growth restriction presenting AOS associated with cutis marmorata telangiectatica but with no other organ complications. The outcome was complicated by hemorrhagic and septic shock, which resulted in the death of the infant in a setting of multiorgan failure.
Copyright © 2018 Elsevier Masson SAS. All rights reserved.
The Adams–Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13 previously unreported individuals with AOS. In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and congenital heart defects each seen in 23%. CNS anomalies included structural anomalies, microcephaly, vascular defects, and vascular sequelae. CNS migration defects were common. Cutis marmorata telangiectasia congenita (CMTC) was found in 19% of the study population and other vascular anomalies were seen in 14%. Hemorrhage was listed as the cause of death for five of 25 deaths reported. A relatively large number of non-familial probands were reported to have hepatoportal sclerosis with portal hypertension and esophageal varices. Non-familial probands were more likely to have additional anomalies than were familial probands. The data reported herein provide a basis for refining the diagnostic features of AOS and suggest management recommendations for probands newly diagnosed with AOS.
Résumé
L’aplasie cutanée congénitale, ou aplasia cutis congenita (ACC), est une anomalie congénitale rare. Elle se caractérise chez un nouveau-né par l’absence de tissu cutané, localisée ou étendue et atteignant une ou plusieurs zones. Cette affection touche préférentiellement le scalp médian mais peut également concerner de façon plus exceptionnelle le tronc ou les membres. Le plus souvent il s’agit d’une anomalie isolée, cependant il existe des formes familiales ainsi que des associations à d’autres anomalies, telles que le syndrome d’Adams-Oliver, l’association à un fœtus papyracé ou à l’épidermolyse bulleuse. De nombreuses hypothèses ont été avancées : vasculaire, génétique, traumatique, pharmacologique, défaut de fermeture du tube neural, mais l’éthiopathogénie exacte reste à ce jour inconnue. La morbidité et la mortalité de cette malformation vont dépendre de la région atteinte ainsi que de la taille de la perte de substance. Le risque est essentiellement infectieux, hémorragique et thrombotique dans le cas d’une atteinte du vertex associant une aplasie osseuse sous-jacente avec exposition des méninges ou du sinus longitudinal supérieur. La prise en charge initiale de l’ACC va donc faire intervenir des techniques de chirurgie plastique des plus simples aux plus complexes, allant de la mise en place d’une cicatrisation dirigée à la réalisation de lambeaux de couverture. D’autres techniques comme l’expansion cutanée pourront être utilisées dans la prise en charge des séquelles de l’ACC, notamment pour l’alopécie cicatricielle.
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 congenita (ACC) refers to any condition in which there is absence of skin at birth. This can be isolated ACC occurring on the scalp, with or without underlying ectopic neural tissue, or ACC can be associated with other conditions such as Adams-Oliver syndrome or epidermolysis bullosa. We discuss the different types of ACC and associated anomalies along with an approach to diagnosis and management.
A 29-year-old woman consulted together with her husband for a problem of congenital joint contractures. Clinical findings in the woman were characteristic of "amyoplasia congenita". In view of the severe distal limb involvement, the possibility of a distal arthrogryposis was also considered. Unexpectedly, the husband presented terminal transverse defects, mainly of the feet, suggestive of Adams-Oliver syndrome, an autosomal dominant condition with variable expression. This discovery significantly altered the counseling given to the couple, i.e. they had to be given a high recurrence risk for congenital limb malformations in their offspring and rigorous echographic monitoring of future pregnancies was advised.
Aplasia cutis congenita of the scalp combined with terminal transverse limb defects (Adams-Oliver syndrome) is a rare congenital disorder with autosomal dominant inheritance. Thirty-one patients with the complete syndrome have been published. We report three additional patients (one mother and her affected child, one sporadic case) and discuss the probable vascular disruptive pathogenesis, the clinical variability and the treatment of this condition in the light of a comprehensive review of the literature.
We describe a case of Adams-Oliver syndrome in twin boys born to a mother with a history of cutis aplasia. We review the presentation of this syndrome, the occurrence of associated anomalies, the mode of genetic transmission, and the variety of treatment options advocated in the literature. Although most patients with cutis aplasia congenita have no other abnormalities, patients with Adams-Oliver syndrome frequently have a variety of associated anomalies. These associated anomalies may influence management decisions and necessitate a multidisciplinary approach to the care of these infants, including genetic counseling of the family regarding the risk of recurrence. In genetic counseling, autosomal dominant inheritance with great variability in expression of the syndrome of congenital scalp defects and extremity anomalies should be stressed. Perinatal ultrasonic examination and echocardiography may be indicated in all potentially affected pregnancies.
Adams-Oliver syndrome is a congenital condition comprising congenital scalp defects and distal limb abnormalities. We report a child with the sporadic form of the disease who had minimal disease expression, illustrating the wide clinical spectrum of the syndrome.