We describe a child with congenital aplasia cutis congenita of the scalp and an occult giant posterior fossa arteriovenous fistula. Johansonblizzard syndrome with stellate scalp defects. Eisayed 2 1 plastic surgery unit and 2department of neurosurgery, hamad medical corporation, doha, state of qatar received october 5, 1991 abstract. In addition to the classical combination of transverse limb. Aplasia cutis congenita is a rare, congenital disorder.
Aplasia cutis congenitagastrointestinal is a rare disorder inherited as an autosomal recessive trait. 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. Recognizable neonatal clinical features of aplasia cutis. Aplasia cutis is an exceedingly rare congenital absence of skin, or a type of skin loss that occurs during development of the fetus. Its management and the timing of surgery remain controversial because of the risks involved with both conservative and surgical approaches.
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 affected area in cases of aplasia cutis congenita, although skin tissue can be missing from any. All but two patients were examined in the first year of life. Aplasia cutis congenital with amniotic band disruption complex. Pubmed is a searchable database of medical literature and lists journal articles that discuss aplasia cutis congenita of limbs recessive. Aplasia cutis congenita nord national organization for. Besides congenital absence of skin and cicatricial.
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. Aplasia cutis congenita gastrointestinal is a rare disorder inherited as an autosomal recessive trait. Aplasia cutis congenita how is aplasia cutis congenita. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. 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. Aplasia cutis congenita symptoms, causes, diagnosis. 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. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital. Etiological heterogeneity and clinical variability in newborns with esophageal atresia. It most commonly affects the scalp, but any location of the body can be affected. Its association with a number of congenital malformations is well documented. 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.
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 of the scalp what are the steps. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Click on the link to view a sample search on this topic. The type of lesion may be classified into one of nine groups.
Aplastic anemia is the failure of the body to produce blood cells. Aplasia cutis congenita of the scalp with a familial pattern. Cutis aplasia means missing skin and is a congenital present at birth condition where a section of skin, usually on the scalp, is missing. Surgical closure of the skin was performed 5 days following birth. It is usually detected at birth and most commonly affects the scalp as a solitary lesion. Aplasia cutis congenita of limbs recessive genetic and. May 01, 2012 aplasia cutis congenita acc is a rare disorder that is estimated to affect approximately three newborns in every 10,000 live births. 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 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 acc is a rare, heterogeneous group of congenital disorders characterized by focal or widespread absence of the skin. Background 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. Aplasia cutis congenita acc is a congenital, localized absence of skin that most commonly affects the scalp.
Aplasia cutis congenita article about aplasia cutis. Graham jr md, scd, in smiths recognizable patterns of human deformation third edition, 2007. Her elder two siblings have been diagnosed with acc with concomitant cardiac or limb anomalies. We report the case of a newborn boy presenting acc of the vertex with a skull defect. Sep 09, 2014 aplasia cutis congenita has always been associated with other congenital malformations such as epidermolysis bullosa, ectrosyndactylia, and pyloric atresia. 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%. 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. This page explains the condition called cutis aplasia, what causes it and how it can be treated. Defective development resulting in the absence of all or part of an organ or tissue.
Aplasia cutis congenita associated with malformation syndromes including trisomy with large membranous defect patau syndrome, wolfhirschhorn syndrome deletion of the short arm of chromosome 4 with midline scalp defects, setleis syndrome with bitemporal aplasia cutis congenita and abnormal eyelashes. 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. Introduction a congenital defect of the scalp is an uncommon entity occurring in one in 2000 deliveries 1. Defective development or congenital absence of an organ or tissue. Nonsyndromic aplasia cutis congenita genetics home. Aplasia cutis congenita, spastic paralysis, and mental. We wish you a cure and never get sick of this disease.
Aplasia cutis congenita acc is a condition characterized by congenital absence of skin, usually on the scalp. This medication is given to treat an overactive thyroid gland. Aplasia cutis congenita is usually observed on the scalp as a small area devoid of skin. Aplasia cutis congenita of limbs recessive genetic and rare. It usually presents as an isolated defect on the scalp slightly off the midline, but sometimes it may occur as multiple lesions. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Apr 26, 2020 aplasia cutis congenita, also known as cutis aplasia, is a rare congenital disorder that causes the affected person to be born without a portion of the skin.
In its severe phenotype, it is potentially life threatening. Aplasia cutis congenita, also known as cutis aplasia, is a rare congenital disorder that causes the affected person to be born without a portion of the skin. A rare case of aplasia cutis congenita request pdf. It may present certain diagnostic problems in the newborn infants. Aplasia cutis congenita with rare association and unusual presentation abdominal aplasia cutis congenital. Here we report on a girl with aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. Aplasia cutis congenita of the scalp what are the steps to.
It also outlines what you can expect when a child comes to great ormond street hospital gosh for assessment and treatment. Esterly, md chicago, illinois twentytwo cases of cutis marmorata telangiectatica congenita were evaluated during an 8year period. Acc can occur as an isolated condition or in the presence of other congenital anomalies. Membranous aplasia cutis is a flat, white membrane overlying a defect in the skull. In some cases, some of the underlying tissues, such as bone, may be missing as well. Aplasia cutis congenita acc is a rare and heterogenous group of congenital disorders that are characterized by localized or widespread absence of skin.
The term aplasia cutis is used to describe congenital localized defects of the skin. Aplasia cutis congenita acc is a rare condition characterized by the absence of a portion of skin at birth. Pdf aplasia cutis congenita skull defect brain heterotopia. Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Acc begins as multiple or solitary, sharply marginated. Acc can occur any it seems to us that you have your javascript disabled on your browser. Such a constellation of features has not been described before, although case reports on patients with some similar features have been published bronspiegel et al. Combined conservative and surgical management for aplasia. Aplasia cutis congenita acc is a rare malformation characterized by localized absence of the skin, mostly on the scalp, but also on any part of the body.
The exact incidence of such malformations is unknown. Aplasia cutis congenita american academy of pediatrics. Aplasia cutis congenita acc of the vertex is a rare and potentially severe malformation. Tisserandperrier 1953 reported a 3generation family with aplasia cutis congenita restricted to the skull vertex. It is caused by a defect in a developmental process. Hennekam,2 gianantonio spena,3 guido morcaldi,1 antonio di stefano,1 giovanni serra,4 and carlo bellini4 1. Her elder two siblings have been diagnosed with acc with concomitant cardiac or limb.
It usually occurs as an isolated finding but can be associated with other abnormalities. Aplasia cutis ac or congenital absence of skin is a relatively uncommon developmental skin disorder, affecting approximately 3 in 10,000 live births. Aplasia cutis congenita of the scalp with a familial. 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. This disorder is characterized by extensive aplasia cutis congenita and the absence of a normal opening in the canal that goes from below the mouth to the stomach esophagus, the tubeshaped part of the stomach, andor the short part of the. Jul 29, 2009 aplasia cutis congenita acc is a rare condition characterized by the absence of a portion of skin at birth. A case of extensive aplasia cutis congenita with underlying. Extensive aplasia cutis congenita, together with cerebral atrophy, was present in a girl with spastic paralysis and mental retardation. Pdf aplasia cutis congenita of the scalp researchgate. Here we describe a case of a 16dayold baby girl with an isolated acc of the scalp. 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. This video covers a case example of congenital cutis aplasia. Case report a 45dayold boy presented to the outpatient clinic of dermatology at king abdul.
Aplasia cutis congenita has always been associated with other congenital malformations such as epidermolysis bullosa, ectrosyndactylia, and pyloric atresia. Aplasia cutis congenita acc is developmental absence of skin in a localized or widespread area at birth. Aplasia definition of aplasia by the free dictionary. The preauricular location is a rare form of aplasia cutis.
Membranous aplasia cutis congenita jelin 2009 journal. Aplasia cutis congenita definition of aplasia cutis. A plasia cutis congenita acc is a rare, etiologically heterogeneous condition characterized by the absence of a segment of skin. The photos of aplasia cutis congenita below are not recommended for people with a weak psyche. Aplasia cutis congenita an overview sciencedirect topics. Aplasia cutis definition of aplasia cutis by medical.
Aplasia article about aplasia by the free dictionary. Frieden classified acc in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. Acc can occur anywhere on the body, but the vast majority of cases occur on the scalp. Aplasia cutis congenita with rare association and unusual presentation complete labyrinthine aplasia cla is the absence of the cochlea, vestibule, semicircular canals sccs, vestibular and cochlear aqueducts figure 2. Aplasia cutis congenita acc is a rare disorder that is estimated to affect approximately three newborns in every 10,000 live births. Lesions most commonly occur on the top of the head skull vertex, although they can be found on the torso or limbs. Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin lesions. In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. A rare bullous variant of aplasia cutis congenita has been reported. Parent and child were affected in at least 3 families and sibs and cousins in others hodgman et al. Aplasia cutis definition of aplasia cutis by medical dictionary. Aplasia cutis congenital acc is a rare, heterogeneous congenital disorder.
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