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

BACKGROUND: 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. AIM: To establish whether, 34 years on, the Frieden classification still meets the needs of dermatologists. METHODS: 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 5 years. RESULTS: Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5 years, 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. CONCLUSION: 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.

A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita.

Aplasia cutis congenita (ACC) is a term describing absence of skin at birth. ACC is a rare cutaneous finding, often noted with no other physical abnormalities. The etiology of ACC varies, and there are likely several causes for its development. ACC can be located anywhere on the body. Its clinical appearance and location can alert the clinician to other potential abnormalities and associations. This discussion covers the diagnosis of ACC and its subtypes and associations in order to provide a pragmatic, clinically relevant and patient-centered approach to evaluation and treatment.

[Aplasia cutis congenita: Update and management]. / Aplasia cutis congenita : mise au point et prise en charge.

Congenital skin aplasia, or aplasia cutis congenita (ACC) is a rare congenital disease. It is characterized by the absence of skin at birth, localized or widespread, of one or several areas. This condition commonly involve the scalp but can also involve more rarely the trunk or limbs. However it is most frequently an isolated disorder, it can be associated with other anomalies, such as the Adams-Oliver syndrome, the association with a fetus papyraceus or with an epidermolysis bullosa. Many hypothesis have been suggested: vascular, genetic, traumatic, pharmacological or an anomaly in the neural tube closure process, but the exact mechanism is still unknown. Morbidity and mortality of this malformation depends on the affected area and the size of the defect. The main risk is the infection, hemorrhage and thrombosis in the case of a scalp defect with an underlying bone defect, the exposure of the meninges and the superior sagittal sinus. The initial management of ACC will therefore involve several plastic surgery techniques, from more simple to more complex, using conservative wound care to flaps techniques. Other techniques can be performed later, in the management of ACC sequelae, such as skin expansion for scarring alopecia.

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

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Visual diagnosis: newborn with absence of skin.

ACC is a rare condition that has to be approached by a multidisciplinary team, including a pediatrician, dermatologist, and plastic surgeon. Associated malformations should be ruled out in a patient with ACC, and conservative management is usually the mainstay of treatment. Antibiotic therapy is not used routinely unless lesions are infected.

Aplasia cutis congenita of the arm with associated radial dysplasia: case report, review of the literature, and proposed classification.

Aplasia cutis congenita (ACC), congenital absence of skin, is most common on the scalp but may rarely occur on the trunk and limbs. It is a physical finding that can occur in isolation or as part of a heterogeneous group of syndromes. It can affect localized to widespread areas of absent or atrophic, scarred skin at birth. We report a case of ACC of the distal right forearm associated with radial dysplasia in a newborn boy. According to the Frieden classification of ACC, this case, along with other similar reported cases, highlights the need to adjust the classification scheme commonly used for ACC so that it reflects the associated limb abnormalities with ACC of the extremities. Only five cases describing the association of radial dysplasia with ACC of the arm were found in the literature. Greater awareness of this association may allow for early intervention and better outcomes in children with ACC of the extremities.

Displasias ectodérmicas: revisión clínica y molecular / Ectodermal Dysplasias: A Clinical and Molecular Review

Las displasias ectodérmicas son un amplio grupo de trastornos hereditarios que se caracterizan por la alteración de estructuras derivadas del ectodermo. Aunque algunos de estos síndromes poseen características específicas, determinados rasgos clínicos son comunes en muchos de ellos. De modo general, se diferencian 2 grupos de trastornos: uno caracterizado por la aplasia o hipoplasia de los derivados ectodérmicos, que fracasan en su desarrollo y diferenciación por la ausencia de señales recíprocas específicas entre ectodermo y mesénquima, y otro en el que la característica más llamativa es la queratodermia palmoplantar, que se presenta en asociación con otras manifestaciones cuando se afectan otros epitelios altamente especializados. En las últimas décadas se ha logrado identificar el gen responsable en al menos 30 entidades, permitiéndonos entender los mecanismos patogénicos y su correlación con la clínica (AU)

The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of ectodermal tissues, which fail to develop and differentiate because of a lack of reciprocal signaling between ectoderm and mesoderm, the other has palmoplantar keratoderma as its most striking feature, with additional manifestations when other highly specialized epithelia are also involved. In recent decades, the genes responsible for at least 30 different types of ectodermal dysplasia have been identified, throwing light on the pathogenic mechanisms involved and their correlation with clinical findings (AU)

Focal preauricular dermal dysplasia in a newborn.

We report a case of focal preauricular dermal dysplasia in an 18-day-old healthy girl. We discuss the classification of focal preauricular dermal dysplasia within the spectrum of focal facial dermal dysplasia and aplasia cutis congenita.

Ectodermal dysplasias: a clinical and molecular review.

The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of ectodermal tissues, which fail to develop and differentiate because of a lack of reciprocal signaling between ectoderm and mesoderm, the other has palmoplantar keratoderma as its most striking feature, with additional manifestations when other highly specialized epithelia are also involved. In recent decades, the genes responsible for at least 30 different types of ectodermal dysplasia have been identified, throwing light on the pathogenic mechanisms involved and their correlation with clinical findings.

Aplasia cutis congénita: lo que se conoce en el presente / Aplasia cutis congenita

Se expone una revisión sobre aplasia cutis congénita (ACC), dermatosis poco frecuente, caracterizada por la ausencia de piel al nacer. Se describen su sinonimia, definición, rasgos epidemiológicos, etiología en sus diferentes teorías comola amniogénica, la vascular, fuerzas biomecánicas sobre el vértice de la piel cabelluda durante la embriogénesis, porfármacos teratógenos, por infecciones intrauterinas (virales), por factores genéticos, traumáticos, involución intraúterode hemangioma, y cierre frustro del tubo neural. La clínica es abordada a través de sus diferentes clasificacioneses bozadas en el tiempo, citando las más reportadas como la de Demmel, Sybert, Atherton y, culminando con el desarrollode la postulada por Frieden, en la que son incluidas las modificaciones que en el tiempo se han introducido en el grupo 1. Se continúa con el diagnóstico y diagnóstico diferencial y, sus estudios complementarios en fase prenatal y postnatal, paralo cual se bosqueja una hoja de recolección de datos para pacientes en quienes se sospecha de ACC. Seguido del manejo y tratamiento, complicaciones, pronóstico y, finalizando con la orientación para la educación al paciente.

We expose a review on aplasia cutis congenita (ACC), dermatosis little frequents, characterized by the absence of skin when beingborn. Their synonymy, definitions, characteristics epidemiologists, etiology in their different theories like the amniogenesis, the vascular one are described, biomechanic forces on the vertex ofthe hairy skin during the embryogenesis, by teratologic drugs,intrauterine infections (virals), by genetic, traumatic factors,involution intrauterus of hemangioma and closing frustrateof the neural tube. The clinics is boarded through its different classifications outlined in the time, mentioning the most reported like the one of Demmel, Sybert, Atherton and culminating with the development of the postulated one by Frieden, in which we included the modifications that in time have been introduced ingroup 1. We continued with diagnosis and diagnosis differentialand its complementary studies in prenatal and postnative phase,for which a leaf data collection for patients in those who issketched ACC suspicion. We followed with the handling and treatment, complications, prognosis and finalizing with the direction for education to the patient.

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.

Comparison of perceptions of oral health-related quality of life in adolescents affected with ectodermal dysplasias relative to caregivers.

The objective of this study was to assess the perceived oral health-related quality of life (OHQoL) of adolescents affected with one of the ectodermal dysplasias (EDs). Data were collected from 2003 to 2007 in a cross-sectional study of a convenience sample of individuals affected by ED (n = 35) using the Child Perceptions Questionnaire (CPQ11-14) for children and the Parent-Caregiver Perceptions Questionnaire for their caregivers. The main findings of this study were that individuals who were affected with ED in the older age group (15- to 19-year-olds) perceived more functional problems than younger individuals (11- to 14-year-olds) (p= .04). Females with ED (n = 13) perceived more emotional problems than males (n = 22; p= .01). Although caregivers tended to report slightly higher OHQoL scores (indicating worse OHQoL), no significant differences were observed between children's and parents' total OHQoL and individual domains' median scores (p > .05). Thus, the perceptions of oral health and well-being may vary by age and gender for children who have ED. Caution is warranted concerning using parents as proxies for their children when assessing the child's OHQoL.

Epidermal nevi.

Nevi or nests of cells may be made up of a variety of cell types. The cell types that live in the epidermis include epidermal cells or keratinocytes, sebaceous glands, hair follicles, apocrine and eccrine glands, and smooth muscle cells. This article discusses epidermal or keratinocyte nevi, nevus sebaceous, nevus comedonicus, smooth muscle hamartomas, and inflammatory linear verrucous epidermal nevi. Syndromes associated with epidermal nevi are also reviewed.

Hypohidrotic ectodermal dysplasia - diagnostic aids and a report of 5 cases.

Hypohidrotic ectodermal dysplasia (HED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of HED. Missing teeth or abnormal tooth form may be the first indicator of the disorder. We present a case report of 5 cases of HED with their intraoral findings and their treatment plan. We also consider the various etiological factors and their clinical diagnostic aids.

Perspective on the classification of ectodermal dysplasia.

The need for revisiting the classification of ectodermal dysplasia syndromes has come. Prior to considering a new way to classify this group of disorders, however, thought should be given to some basic ideas about terminology and the process of classification. Consequently, this article reiterates the meanings of the words ectoderm, dysplasia, genetic and syndrome, and describes the process by which numeric taxonomists go about classification. In the process, a new family with the Jorgenson syndrome is described and the inheritance of the Schopf syndrome is clarified. Finally, the backgrounds of those with vested interests in the ectodermal dysplasia syndromes are described in order that all approaches to classification are covered.

Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.

The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders.