Aplasia cutis congenita, a rare congenital disorder involving defects of some or all of the layers of the cranium, is associated with potential lifethreatening complications. Files are available under licenses specified on their description page. Aplasia cutis congenita is characterized by congenital focal absence of skin in a newborn. First reported by cordon in 1767, aplasia cutis congenita most commonly 70% manifests as a solitary defect on the scalp, as noted in the first image below, but sometimes it may occu. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for aplasia cutis congenita. Aplasia cutis congenita is defined as congenital localized absence of skin. This absence of skin most commonly affects the scalp, but any location of the body surface can be affected.
Recognizable neonatal clinical features of aplasia cutis. The scalp is involved in approximately 80% to 90% of cases with occasional loss of all cranial tissues including calvarium and dura 15% to 30%. It most commonly affects the scalp, but any location of the body can be affected. Aplasia cutis congenita acc refers to any condition in which there is absence of skin at birth. Aplasia cutis congenital, diagnosis, etiology, prognosis, management. These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Which congenital blistering condition is caused by a mast cell growth factor receptor kit mutation. Aplasia cutis congenita cutis aplasia this video covers a case example of congenital cutis aplasia.
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Acc can occur anywhere on the body, but the vast majority of cases occur on the scalp. Aplasia cutis congenita genetic and rare diseases information. Read aplasia cutis congenita associated with syndactyly and supernumerary nipples. Scalp vertex aplasia begins as multiple or solitary, sharply marginated, raw areas with absence of skin. Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin.
You can enjoy this soft file pdf in any grow old you expect. A rare case of aplasia cutis congenita request pdf. Click on the link to view a sample search on this topic. Sep 17, 2016 aplasia cutis congenita is a condition in which there is congenital present from birth absence of skin, with or without the absence of underlying structures such as bone. Aplasia cutis congenita is usually observed on the scalp as a small area devoid of skin.
It is the most common form of congenital cicatricial alopecia, a type of permanent hair loss that involves simultaneous destruction of the hair follicles and creation of scar tissue. It can occur anywhere on the body, but most commonly presents as a small erythematous. In some cases, underlying tissues, including bone, may be missing as well. Other words that entered english at around the same time include.
Aplasia cutis congenita acc is a rare and heterogenous group of congenital disorders that are characterized by localized or widespread absence of skin. Bullous aplasia cutis congenita bacc is a rare clinical subtype that has few documented reports in the literature. Aplasia cutis congenita is a condition in which there is congenital present from birth absence of skin, with or without the absence of underlying structures such as bone. Aplasia cutis congenita is a rare heterogeneous group of congenital developmental disorder of the skin. Aplasia cutis congenita jama dermatology jama network. The area of missing skin varies in size from a few millimetres to up to 10cm across. The authors report the use of intraoperative tissue expansion in the treatment of a neonate with aplasia cutis congenita, a congenital defect of the scalp and skull. The clinical diagnosis was aplasia cutis congenital and the main task a. We report an interesting presentation of acc in a neonate with extensive lesions over bilateral thighs as well as feet. Te shirvany conclusion different clinical presentations may be observed in infants with aplasia cutis congenita born from twin or triple pregnancies associated with early death of one or two fetuses. Aplasia cutis congenita acc is an uncommon disorder presented at birth 1, which commonly involves the skin of the scalp corresponding author. A case report dr mr vijayashankar dermatology online journal 11 3. Case report open access a novel mutation in itgb4 gene. Aplasia cutis congenita acc is a rare skin defect usually localized to the vertex.
A rare bullous variant of aplasia cutis congenita has been reported. Aplasia cutis congenita of the scalp with a familial pattern. Aplasia cutis congenita of the scalp what are the steps to be. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. Case report open access a novel mutation in itgb4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita emel okulu1, ceren d. Most commonly the scalp skin is affected and results in localized alopecia at the site of the defect, but sometimes the defect can extend into deeper structures involving the dura mater or osseous. The prognosis is determined by the presence of associated malformations and the size and location of the defect, the scalp being the most frequently affected area. Abstract background aplasia cutis congenita acc is a rare and. Nonsyndromic aplasia cutis congenita genetics home.
Aplasia cutis congenita acc, classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not always be reported. One of the cases also had pre and postaxial polydactyly and other digital anomalies. For language access assistance, contact the ncats public information officer. Aplasia cutis congenita associated with epidermolysis. In some cases, some of the underlying tissues, such as bone, may be missing as well. Aplasia cutis congenita is a rare condition characterized by localized absence of epidermis, dermis and in some cases the underlying tissues. Frieden classified acc in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. Links to pubmed are also available for selected references. Aplasia definition and meaning collins english dictionary. Its association with a number of congenital malformations is well documented. Aplasia cutis congenita acc is a clinical neonatal finding of absence or defects involving the skin and encompassing heterogeneous disorders of various etiologies and severity. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Pdf paplasia cutis congenita acc is a rare condition in which there is congenital focal absence of skin with or without absence of underlying. Aplasia cutis congenita of limbs recessive genetic and rare.
The type of lesion may be classified into one of nine groups. 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. Aplasia cutis congenita acc may occasionally be associated with other anomalies. Acc can occur as an isolated condition or in the presence of other congenital anomalies. Cutis aplasia or aplasia cutis congenita acc is an uncommon and rare congenital abnormality involving variant layers of the skin, mostly as a solitary lesions involving the midline over the skull vertex. Pubmed is a searchable database of medical literature and lists journal articles that discuss aplasia cutis congenita of limbs recessive. Report of a second family with similar clinical findings, pediatric dermatology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Several clinical groups are characterised by the location and pattern of skin defects, associated malformations and the mode of inheritance. The scalp is the most commonly involved area with lesser involvement of trunk and extremities.
What is the life expectancy of someone with aplasia cutis congenita acc. Adipose tissue is an integral structural component of normal rabbit marrow and is believed to behave primarily as a cushion in response to hemopoietic proliferation, accommodating to changes in hemopoiesis by change in either size or number or both of the fat cells in order to maintain constancy of the marrow volume. Aplasia cutis congenita acc is an uncommon disorder that presents as a focal defect of the skin at birth, frequently involving the midline over the skull vertex. Scalp vertex aplasia, or aplasia cutis congenita acc, is a relatively common congenital defect resulting in localized absence of skin, usually occurring on the scalp as an isolated finding not associated with other abnormalities. This type presents as truncal acc with symmetrical. Aplasia cutis congenita is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive trait. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. Aplasia cutis congenita describes the congenital absence of skin.
Jul 31, 2018 aplasia cutis congenita acc is a heterogenous group of disorders characterized by the absence of a portion of skin in a localized or widespread area at birth. Aplasia cutis congenita is a rare congenital condition characterised by the absence of some or all layers of the skin. The twin boys were born prematurely after 33 weeks and 3 days of gestation and it was initially thought that the hairless regions, which also had no skin cover, were caused by a fetal scalp electrode. Aplasia cutis congenita acc is a rare disorder that is estimated to affect approximately three newborns in every 10,000 live births. A newborn child was noted to have an ulcerated lesion on the vertex of her scalp, which was diagnosed as aplasia cutis congenita. Life expectancy of people with aplasia cutis congenita acc and recent progresses and researches in aplasia cutis congenita acc. The case for immediate surgical intervention is presented, and intraoperative tissue expansion and cranioplasty are recommended as components of an effective surgical approach. Aplasia cutis is also a component of a number of genetic syndromes. Additional cases have been described in association with aplasia cutis congenita 3 spina bifida, 9 neonatal ascites, 1 and macrocephaly. Here we describe a case of a 16dayold baby girl with an isolated acc of the scalp. Adamsoliver syndrome is a rare condition that is present at birth. Aplasia cutis congenita of the scalp what are the steps. Aplasia cutis congenita acc is a rare congenital disorder characterized by fullthickness absence of the skin and underlying tissues over a section of the body. The primary features are an abnormality in skin development called aplasia cutis congenita and malformations of the limbs.
Aplasia cutis congenita an overview sciencedirect topics. The skin appears as a thin, transparent membrane through which the underlying structures are visible. Aplasia cutis congenita is a rare malformation characterized by localized. Localised agenesis of the scalp is the most frequent patern in aplasia cutis congenita acc, a congenital absence of the skin and occasionally of deeper layers. Aplasia cutis congenita definition of aplasia cutis. Aplasia cutis congenita acc is a congenital disorder characterized by localized or generalized absence of skin. Although treatment involves both nonsurgical and surgical techniques, the importance of perioperative management cannot. Aplasia cutis congenita acc is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. Acc has rarely been reported in association with fetus papyraceus. Aplasia cutis congenita acc is an uncommon disorder that presents as a focal defect of the skin at birth, frequently involving the midline over the skull vertex 70%, but it may affect any region of the body 17. Aplasia cutis congenita acc, or congenital absence of skin, is a heterogeneous condition that may be due to varied mechanisms. Aplasia cutis congenita symptoms, causes, diagnosis.
Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component. Aplasia cutis congenita acc is an uncommon disorder that presents as a focal defect of the skin at birth, frequently involving the midline over the skull vertex 70%, but it may affect any region of the body. Where dura is exposed there exists a risk of ulceration and haemorrhage and thus primary closure is indicated. Aplasia cutis congenita is a rare, congenital disorder.
Aplasia cutis congenita is a rare anomaly presenting with absence of skin. Two cases of aplasia cutis congenita are reported here. View the article pdf and any associated supplements and figures for a period of 48 hours. Aplastic anemia is the failure of the body to produce blood cells. Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, artrogriopse is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Aplasia cutis congenita acc mim 107600 manifests at birth as a localized skindefectthat usually healswitha hypertrophic scar. Kaoutar moustaide, route sidi harazem, hospital universitaire hassan ii, morocco, tel no. Regardless of form and cause, therapeutic options have in common the aim to restore the deficient mechanical and immunological. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Her elder two siblings have been diagnosed with acc with concomitant cardiac or limb anomalies. Interstitial laser therapy for fetal reduction in monochorionic multiple pregnancy. We discovered the association of acc and intestinal lymphangiectasia il in a patient and probably in his brother.
Aplasia cutis congenita associated with syndactyly. Aplasia cutis congenita nord national organization for. Chief of staff, automatism, highball, impressionism, jackpotplasia is a combining form with the meaning growth, cellular multiplication, of the kind specified by the initial element. Aplasia cutis congenita acc is a rare congenital skin defect characterized by a focal or extensive absence of the epidermis, dermis, and. Aplasia cutis congenita american academy of pediatrics. Eisayed 2 1 plastic surgery unit and 2department of neurosurgery, hamad medical corporation, doha, state of qatar received october 5, 1991 abstract. Such symmetrical distributions being rarely reported. Death occurs in 20% of cases, secondary to the associated anomalies, to infections or to.
It has been reported in association with other disorders involving mainly ectodermal and mesodermal structures. Membranous aplasia cutis is a flat, white membrane overlying a defect in the skull. Aplasia cutis definition of aplasia cutis by the free. If you have problems viewing pdf files, download the latest version of adobe reader. Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Apr 10, 2018 aplasia cutis congenita acc is a rare skin condition present at birth in which certain layers of the skin are absent from one or multiple areas on the newborns body most commonly involving the scalp. Its extreme rarity, in comparison with the great fr. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. Acc can occur any it seems to us that you have your javascript disabled on your browser. Aplasia cutis ac or congenital absence of skin is a relatively uncommon developmental skin disorder, affecting approximately 3 in 10,000 live births. It is usually detected at birth and most commonly affects the scalp as a solitary lesion. Get a printable copy pdf file of the complete article 216k, or click on a page image below to browse page by page. Extensive aplasia cutis congenita, together with cerebral atrophy, was present in a girl with spastic paralysis and mental. Congenital defect of the skin constitutes one of the rare and interesting anomalies peculiar to the newborn.
Aplasia cutis congenita acc is defined as congenital localized absence of skin. Two case reports and discussion of the literature, published on pages 273, issue 1, volume 8 of surgical neurology international, the name of the authors is written incorrectly as blionas alexandros, giakoumettis dimitrios, antoniades elias, drosos evangelos, mitsios andreas, plakas sotirios, sfakianos georgios, themistocleous s. Apr 04, 2020 aplasia cutis is an exceedingly rare congenital absence of skin, or a type of skin loss that occurs during development of the fetus. Cutis aplasia is a term used to describe an area of skin that has not formed fully and is a congenital present at birth condition.
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 adamsoliver syndrome or epidermolysis bullosa. Mim107600, 207700, 207730 congenital absence or deficiency of a localized area of skin, with the base of the defect covered by a thin translucent membrane. Pdf aplasia cutis congenita of the scalp researchgate. What is the life expectancy of someone with aplasia cutis. In its severe phenotype, it is potentially life threatening. Aplasia cutis congenita of the scalp what are the steps to. Since 1767, about 500 cases have been reported in medical lit.
Route sidi harazem, hospital universitaire hassan ii. Distorted hair growth, known as the hair collar sign, is a marker for an underlying cranial defect such as encephalocoele, meningocoele, and brain tissue outside the skull. Aplasia cutis congenita, congenital absence of a localized area of skin, usually on the vertex of the scalp, occurs as an isolated defect, or with one or more other congenital anomalies as part of. It may also be associated with absence of underlying muscle and bone. The commonest form presents as a scalp defect at birth. Frieden classified acc with fetus papyraceus as type 5. Aug 23, 20 aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin.
The term aplasia cutis is used to describe congenital localized defects of the skin. Aplasia cutis congenita, spastic paralysis, and mental. Aplasia cutis congenita acc is a condition characterized by congenital absence of skin, usually on the scalp. It is caused by a defect in a developmental process. Aplasia cutis congenita and intestinal lymphangiectasia. A variety of other features can occur in people with adamsoliver syndrome. In the majority of cases, it is limited to the scalp especially.
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