Aplasia Cutis Research Articles

Dermoscopy of Aplasia Cutis Congenita: A Case Report and Review of the Literature.

Dermoscopy of Aplasia Cutis Congenita: A Case Report and Review of the Literature.

Approach in Management of Aplasia Cutis Congenita in a Newborn with Adam Oliver Syndrome

Introduction: Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterized by the absence of skin and adjacent tissue that usually affect the scalp. A large scalp defect in ACC with adjacent tissue anomalies is associated with high morbidity and mortality. The management of these lesions can be challenging. The treatment can be either conservative, surgical, or combined. Case: A full-term newborn girl delivered with a huge scalp defect. The dura mater was exposed but intact and there was no Cerebrospinal Fluid (CSF) leakage. She also had bilateral talipes equinovarus and terminal reduction of multiple toes in the left foot. Genetic testing was positive for Adam Oliver Syndrome. Conservative medical management was initiated at birth and continued until discharge at 4 weeks of age. The patient had a regular follow-up with plastic surgery and neurosurgery teams. At 11 months old, the defect became smaller, hairless with good granulation tissue, but still soft and compressible. Conclusion: Large scalp midline ACC is a rare, but potentially devastating disease when involved adjacent tissue. The choice of treatment is not straightforward and it is mainly based upon the size, depth, and the risk of pre and post-treatment complications. Conservative management still is an option with very complex ACC.

A rare association of aplasia cutis congenita with ipsilateral linear verrucous epidermal naevus

Aplasia cutis congenita (ACC) refers to congenital absence of skin occurring alone or in association with other anomalies. Congenital epidermal naevi are benign naevi of epidermal component present at birth or appearing in the first few years of life in characteristic developmental pattern. We are reporting the case of a 9-month-old female baby born of a non-consanguineous marriage reported to the department of dermatology for loss of skin over the right side of the scalp and lesions over the right upper limb since birth. Systemic examination did not reveal any abnormalities. The mother's antenatal history was uneventful. On examination erythematous, thin parchment-like hairless scar with crusting is present over the right frontoparietal region of the scalp. Hyperpigmented verrucous papules with surrounding erythematous skin present over right axilla, dorsum of right ring finger and hypopigmented macules present over extensor aspect of right forearm in blaschkoid distribution. According to modified Frieden's classification, aplasia cutis has been categorised into nine types. Around 86% of cases are seen over the vertex of the scalp. In the third type, ACC is associated with epidermal naevi. This is an unusual association, hence being reported here.

Adams Oliver Syndrome- A Rare Entity

Adams-Oliver syndrome (AOS) is a rare congenital disorder with an incidence of 1 in 225,000 individuals. It is characterised by the presence of Aplasia Cutis Congenita (ACC) of the scalp and transverse limb defects. The authors herein describes a rare case of late preterm (36-weeks) male neonate born with cranial vault defect and transverse limb defect in the form of constricted short fingers of bilateral hand with Atrial Septal Defect (ASD) diagnosed on Echocardiography (ECHO) while screening. No other associated anomalies were found. Baby was diagnosed as AOS based on these features. Patient was clinically stable with no signs of complications due to skull defect. Multidisciplinary team was involved in management and closure of skull defect was planned if not closed spontaneously in follow-up and early physical therapy or prosthetic application for the limb defects was planned as the child grows. Since the ASD was small, parents were reassured about the spontaneous closure with regular two dimensional (2D) ECHO monitoring. On follow-up at nine months of age, scalp defect closed spontaneously and child is growing well. Clinicians should be aware and all the babies born with ACC and scalp defect should be evaluated for associated anomalies as it can be a part of AOS. The early evaluation and management can be planned accordingly for better outcome.

Kin with no skin: Johanson–Blizzard syndrome in siblings: A rare association of aplasia cutis congenita

Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive disease which was first described in 1971 by Johanson and Blizzard in three unrelated girls. Less than 100 cases have been reported to date. It is characterized by exocrine pancreatic insufficiency, hypoplastic nasal alae, scalp cutis aplasia, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental anomalies, and anomalies of the genitourinary system. The condition is caused by mutations in the UBR1 gene, which encodes the E3 ubiquitin ligase protein responsible for regulating the degradation of proteins. Aplasia cutis congenita is a rare entity characterized by localized or widespread absence of skin from birth. Scalp is the most common site to be involved. Here, we are reporting two interesting cases of JBS in siblings who had aplasia cutis as their initial cutaneous manifestation.

An unusual Case of Faun Tail Nevus with Aplasia Cutis, Dermo-fascial Sinus Defect, Diastematomyelia, and Spinal cord Syrinx.

An unusual Case of Faun Tail Nevus with Aplasia Cutis, Dermo-fascial Sinus Defect, Diastematomyelia, and Spinal cord Syrinx.

Twin pregnancy with fetus papyraceus – vanishing twin

Fetus papyraceus is a mummified fetus, which is related to multiple gestations.[1] In this rare condition, one fetus expires and becomes compressed between the uterine wall and membrane of the other fetus. Surviving infant is at high risk of developing complications secondary to the release of thrombi and other factors from the dead fetus; including prematurity, intrauterine growth retardation, gastroschisis, intestinal atresia, aplasia cutis, congenital heart abnormalities, and even death. We have reported consecutive case series in dichorionic diamniotic twins and monochorionic diamniotic twins successively. In our case reports, both pregnancies resulted in preterm deliveries and were managed successfully without any complications.

Aplasia Cutis Congenita of the Scalp with a Large Cranial Bone Defect：A Case Report

Aplasia Cutis Congenita of the Scalp with a Large Cranial Bone Defect：A Case Report

A rare combination of congenital anomalies following in utero methimazole exposure

Abstract The use of methimazole for the treatment of hyperthyroidism in the first trimester of pregnancy has been linked to several congenital malformations. Most commonly reported is choanal atresia; however, other anomalies have been described including aplasia cutis, esophageal atresia, omphalomesenteric duct remnant, and omphalocele. A definitive phenotype of methimazole embryopathy has not been described. We report a case of a newborn with prenatal methimazole exposure who was found to have an H type tracheoesophageal (TE) fistula, vitelline fistula, ruptured omphalocele, as well as multiple duplication cysts of the stomach and small intestine.

Síndrome de epidermólisis ampollosa juntural-atresia pilórica con aplasia cutis congénita extensa

Síndrome de epidermólisis ampollosa juntural-atresia pilórica con aplasia cutis congénita extensa

17744 Bart syndrome: Case report and systematic review of the literature

Background: Bart syndrome was initially described as congenital absence of skin (CAS), nail abnormalities, and epidermolysis bullosa (EB). Further reports of patients with CAS and EB have been made with wide clinical heterogeneity among them. Current guidelines recommend the elimination of eponyms and use of the descriptive term EB with CAS.

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

BackgroundDamaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined.Case presentationWe report on two probands with novel loss-of-function variants in TRIO. Patient 1 presents with a severe neurodevelopmental disorder and macrocephaly. The TRIO variant is inherited from his affected mother. Patient 2 presents with moderate developmental delays, microcephaly, and cutis aplasia with a frameshift variant of unknown inheritance.ConclusionsWe describe two patients with neurodevelopmental disorder, macro/microcephaly, and cutis aplasia in one patient. Both patients have loss-of-function variants, helping to further characterize how these types of variants affect the phenotypic spectrum associated with TRIO. We also present the third reported case of autosomal dominant inheritance of a damaging variant in TRIO.

Congenital Ossification Defects of the Frontal Bone: Description of a Novel Clinical Entity and the Management of Four Patients.

Embryologic development of the frontoorbital region is complex and is affected by a series of pathologies. These primarily represent failures of fusion at the interface between the frontal bones and the skull base or between the frontal bones themselves, or frontal bone defects in association with atypical craniofacial clefts or cutis aplasia. Isolated ossification defects in the frontal bones themselves are rare, with only 1 case having been previously reported. In that report, the defect was effectively managed with an alloplastic cranioplasty. However, long term results were not presented. Here, we describe 4 cases of isolated frontal bone aplasia their management using autologous bone.

Aplasia cutis congenita with fetus papyraceus: an uncommon case report

<p class="abstract">Aplasia cutis congenita is a condition characterized by congenital absence of all skin layers in a localized or widespread area. Frieden's classification recognized a rare subtype, type V, that is associated with multiple gestations in which there is the in-utero demise of a twin with resultant fetus papyraceus or mummification. A twin pregnancy was complicated by in-utero death of one twin at 5 months. On full term birth of the other twin with fetus papyraceus large defects in the skin of knees were noted bilaterally. Conservative management with topical antibiotics and emollients helped in complete re-epithelialization in few months. As the use of reproductive technologies increase the incidence of multiple gestation and associated conditions are expected to increase. This type is clinically unique in that it is characterized by stellate lesions in a symmetrical distribution over the trunk and extremities, differing from other subtypes, which are typically localized to scalp (70%-85% of cases) or extremities. Management ranges from conservative to surgical grafts.</p>

Type V aplasia cutis congenita in a preterm newborn successfully resolved.

Aplasia cutis congenita (ACC) associated with fetus papyraceus is a rare subtype of aplasia cutis categorized as type V in Frieden's classification. It is characterized by stellate lesions in a symmetrical distribution over the trunk and proximal extremities. Conservative treatment is recommended, but there is not a well-defined therapeutic protocol. We report the case of a type V ACC in a preterm male newborn with lesions on the trunk and scalp successfully treated with topical 1% silver sulfadiazine and petrolatum gauze with an excellent evolution. This case associates a severe affectation of the scalp which represents a rare variant of type V ACC.

Teratogen update: Antithyroid medications.

Thyroid disorders including hyperthyroidism are common during pregnancy. Untreated hyperthyroidism can result in adverse outcomes for pregnancy. Iodine, propylthiouracil (PTU), carbimazole (CMZ), and methimazole (MMI) are common medications for hyperthyroidism treatment. The literature regarding antithyroid medication use in pregnancy and breastfeeding is reviewed. Animal studies for PTU have suggested congenital anomalies while animal studies for MMI have only indicated adverse outcomes at higher doses than used in humans. Epidemiological studies have noted an increased risk of congenital anomalies for PTU less often than CMZ or MMI but the epidemiological evidence remains mixed. A pattern of anomalies has been described for CMZ and MMI, from both case and epidemiological studies, including choanal atresia, aplasia cutis congenita, and other facial, heart, gastrointestinal, and skin anomalies. Closer examination of cases indicates that a few cases of the anomalies have occurred without exposure to CMZ or MMI and outside of the proposed critical period. PTU has a small risk of hepatotoxicity which rarely results in liver transplantation and death. Some authors have suggested that PTU be prescribed in early pregnancy and switched to MMI in late pregnancy. Untreated hyperthyroidism, from either a lack of medications or switching medications during the first trimester, may also increase the chance of congenital anomalies. Multiple case studies and larger epidemiological studies have failed to provide clear, consistent outcomes for the use of PTU, CMZ, and MMI in pregnancy. MMI and PTU both enter the breastmilk in small amounts. Additional research is needed to assist in the medical management and exposure counseling of pregnant and breastfeeding women with hyperthyroidism.

Aplasia Cutis Congenita (ACC): An Extremely Rare Case in Childhood

Aplasia cutis congenita (ACC) is a rare disease characterized by a local absence of skin and, in some cases, subcutaneous tissue. Most cases occur in the scalp, but the lesion can occur anywhere in the trunk and extremities. ACC is usually an isolated defect, but can also be associated with other abnormalities. Most reported cases are sporadic, with a few reports of family events. Neither pathogenesis nor etiology are clarified. In most cases, healing is spontaneous, and apart from keeping the lesion clean, no specific treatment is required. This report presents a case of ACC at the head and provides a brief review of the literature.

Epidermolysis bullosa with congenital absence of skin: Review of the literature

Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, and epidermolysis bullosa (EB). Further reports of patients with CAS and EB have been made with wide clinical heterogeneity among them. Current guidelines recommend the elimination of eponyms and use of the descriptive term EB with CAS. We performed a PubMed and Medline database search of patients with Bart syndrome or EB with CAS. We included case reports or case series that contained clinical and demographic information. After review, 55 articles were included, reporting 96 patients. CAS involved the lower extremities in all patients, with additional upper limb, trunk, or head involvement in 17%. In all patients, the time to healing ranged from 2weeks to 6months; most received only conservative treatment. The subtype and frequency of associated EB most frequently reported were recessive dystrophic EB (41.4%) and dominant dystrophic EB (22.8%). Extracutaneous features were present in 29 patients; with pyloric atresia and ear malformations being the most common. The prognosis varied based on the subtype of EB and the presence of additional comorbidities; 50% of the patients with junctional EB with pyloric atresia and CAS died during the first months of life, while mortality among those with recessive dystrophic EB was 6.8%. Epidermolysis bullosa with CAS is a clinically heterogeneous disorder, most often associated with recessive dystrophic EB, but other EB subtypes may occur. Further investigations are necessary to better establish a pathological mechanism for CAS, and its association with EB.

Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.

Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localized or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used. To establish whether, 34years on, the Frieden classification still meets the needs of dermatologists. We conducted a retrospective chart review of all patients with a diagnosis of ACC presenting over a 25-year period to a tertiary paediatric dermatology department. We compiled demographic data, clinical characteristics (e.g. number, location and morphology of the lesions), imaging and genetic results where available, and other associated abnormalities, and grouped them according to the Frieden classification. For Type 6 ACC (Bart syndrome) we reviewed neonatal photographs of all babies born with epidermolysis bullosa (EB) over 5years. Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5years, 13 of 108 neonates (12%) with EB were born with the appearance of Type 6 ACC. Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate-ectodermal dysplasia 1 syndrome. We conclude that the Frieden classification remains valid with some modifications. Type 3 ACC probably represents a mosaic RASopathy syndrome, while Type 7 could cover nongenetic ACC attributable to trauma. Type 8 should be subdivided into two subgroups: teratogenic and infective. Type 9 covers at least four subgroups. The classification will continue to evolve as new genes and pathomechanisms emerge.

Oliver Syndrome with Extensive Aplasia Cutis Congenita: A Case Report and Literature Review

Aplasia cutis congenita is a very rare and heterogeneous disease. It is characterized by a localized or extensive skin defect, isolated or associated with damage to the underlying structures, including the bone. The diagnosis is based on the clinical examination. Other abnormalities of various etiologies and severities may be associated with this pathology. Adams-Oliver syndrome is a genetic polymalformative syndrome. The typical form is defined by the presence of Aplasia cutis congenita and limb anomalies. Managing Aplasia cutis congenita, especially in severe cases, is a real challenge. We report a case of a newborn, treated surgically, for extensive occipito-parietal Aplasia cutis congenita. The clinical presentation was suggestive of AdamsOliver syndrome. The evolution was favorable. Describing our experience of managing a case of Aplasia cutis congenita is interesting because: the proposed treatment is very controversial, the rarity and the high morbidity and mortality of Aplasia cutis congenita and Adams-Oliver syndrome. As well as clinical and genetic diversity.