Here, we present two cases of aplasia cutis congenita, which represent two different types of the disease. The first case presented as non-syndromic aplasia cutis congenita of scalp, and the other case presented as a part of Bart's syndrome. [mjdrdypu.org]

Aplasia cutis Congenita (ACC) is an uncommon disorder presented at birth [1], which commonly involves the skin of the scalpand other areas, but may involve the subcutaneous tissue, bone, and duramater [2]. [imagejournals.org]

They were 6.3 cm × 4.2 cm, well-defined and symmetrical, present on bilateral flanks joined with a linear streak [Figure - 1]a. [ijdvl.com]

• Developmental Delay

  Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant. Am J Med Genet 2008;146:488-91. 3. [e-ijd.org]

  delay, spastic paralysis, clubbed hands and feet, amniotic bands Sporadic 6 ACC associated with epidermolysis bullosa Blistering of skin and/or mucous membranes, deformed nails, pyloric or duodenal atresia, abnormal ears and nose, ureteral stenosis, [hindawi.com]

  Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?. Clin Dysmorphol 2001;10(1):69-70. [acta.tums.ac.ir]

  Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?. Clin Dysmorphol. 2001 Jan. 10(1):69-70. [Medline]. [emedicine.medscape.com]

• Wound Infection

  In order to accelerate the healing process and prevent wound infection, skin grafting was performed. [spandidos-publications.com]

  After the wound infection was controlled, allografts were used to close the defects. [woundsresearch.com]

• Weakness

  It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). [nectarmutation.org]

  Related symptoms: Autosomal dominant inheritance Short stature Cleft palate Muscle weakness Brachydactyly SOURCES: UMLS MONDO OMIM More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9 Top 5 symptoms//phenotypes associated to Neoplasm and Syndactyly [mendelian.co]

  One area of vintage makeup tutorial 20s hair user experience where HTML5 apps have been historically weak is in their ability to display a PDF within the app. Question:I want to have a web page coded with HTML5, and I want to be able. [icbb.tk]

• Feeding Difficulties

  Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Microphthalmia and Bradycardia, related diseases and genetic alterations Feeding difficulties and High forehead, related diseases and genetic [mendelian.co]

  The newborn did not sustain any birth injury and did not suffer from any other abnormalities or feeding difficulties. She did not require any intensive care and went home from hospital with her mother. [hindawi.com]

• Broad Thumb

  […] showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. [mendelian.co]

• Tachycardia

  Atrial fibrillation Syncope Tachycardia Muscle weakness Short stature 1-5 toe syndactyly Toenail dysplasia Small nail Camptodactyly Foot oligodactyly Hand oligodactyly Ectrodactyly Split hand Reduced visual acuity Cognitive impairment Rod-cone dystrophy [mendelian.co]

• Brachydactyly

  Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. [mayoclinic.pure.elsevier.com]

  Related symptoms: Autosomal dominant inheritance Short stature Cleft palate Muscle weakness Brachydactyly SOURCES: UMLS MONDO OMIM More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9 Top 5 symptoms//phenotypes associated to Neoplasm and Syndactyly [mendelian.co]

  This can include nail abnormalities, fusion of digits (syndactyly) or short digits (brachydactyly) or missing digits (oligodactyly) Cutis marmorata telangiectatica congenita. [dermnetnz.org]

  Brachydactyly is the most common limb defect in AOS. Congenital cutis aplasia is the second most common problem and is present in about 75% of patients with Adams-Oliver syndrome. [encyclopedia.com]

  Brachydactyly (shortening of the fingers or toes) is the most common limb defect in AOS. [dermatologyadvisor.com]

• Foot Deformity

  Top matches: Low match POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1 Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. [mendelian.co]

• Ulcer

  The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation. [ncbi.nlm.nih.gov]

  The defects can rarely present as ulcers, which appear stamped out and have rotund stellate or elongated forms [3]. Histological features vary depending on the depth and duration of aplasia. Ulcers are seen at birth. [imagejournals.org]

  However, defects that develop later in gestation may present as ulcerations of variable depth. [accessanesthesiology.mhmedical.com]

  0001057 2 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770 3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101 4 congenital absence of skin of limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007506 5 skin ulcer [malacards.org]

  In some cases, deeper defects can be observed: ulcerations that go through the dermis, subcutis, periosteum, even the skull and dura, with severe complications. [scielo.br]

• Skin Lesion

  Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. [medlineplus.gov]

  While the skin lesions can occur anywhere on the body, more than 80% of all solitary lesions are found on the scalp in close proximity to the vertex of the skull. [accesspediatrics.mhmedical.com]

  Skin lesions can occur anywhere on the body but are found most often on the scalp. More than 80% of solitary lesions are found on the scalp. [accessanesthesiology.mhmedical.com]

  There is no cure for Adams-Oliver syndrome ; treatment focuses in on symptom management and can include: Skin grafting and cranial or other surgery to repair skin lesions/skull abnormalities Physical therapy, surgery and use of prostheses for limb malformations [dermnetnz.org]

  J Turk Acad Dermatol. 2010;4:04201r.Aplasia cutis may be associated with defects of the underlying skull, especially when the skin lesion is larger than 10cm. [scielo.br]

• Skin Ulcer

  […] of limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007506 5 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042 6 abnormality of the skeletal system 59 Occasional (29-5%) MalaCards organs/tissues related to Aplasia Cutis Congenita [malacards.org]

  0006101 Skin ulcer Open skin sore 0200042 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Showing of 6 | Last updated: 5/1/2019 If you [rarediseases.info.nih.gov]

• Delayed Wound Healing

  Conservative treatment carries a potential risk of infection, sagittal sinus hemorrhage, and delayed wound healing. [woundsresearch.com]

  Although most ACC lesions heal spontaneously, the use of WD is highly recommended for a faster healing process.15 Sorbact® gel dressing-BSN Medical is a modern WD that reduces bacterial load in a wound to support moist wound healing in low exuding or [dovepress.com]

• Thin Skin

  Using the head as the donor site, razor-thin skin was transplanted on the lesion, which healed within a 7-day period without leaving any scars. [spandidos-publications.com]

• Suggestibility

  There is often, but not always, a hair collar which suggests the presence of ectopic neural tissue. [dermatologyadvisor.com]

  Currently, the presence of this syndrome has been documented in indigenous communities in Cauca7 and the presence of one or two founder effects have been suggested in this area in the Colombian southwest8. [docksci.com]

  We, however, suggest that they may characterize a new, distinct, autosomal recessive syndrome, involving vascular disruption. a North West Thames Regional Genetics Service b Department of Paediatrics, North West London Hospitals NHS Trust, Middlesex, [journals.lww.com]

  Notably, an ultrasound scan done at gestational week 8 showed an empty yolk sac which suggested that a third fetus had been present and was reabsorbed in utero. This article is available free of charge. [thelancet.com]

• Spastic Paralysis

  Aplasia cutis congen-ita, spastic paralysis, and mental retardation. Am JDis Child 1944;128:699^701. [documents.tips]

  […] developmental delay, spastic paralysis, clubbed hands and feet, amniotic bands Sporadic 6 ACC associated with epidermolysis bullosa Blistering of skin and/or mucous membranes, deformed nails, pyloric or duodenal atresia, abnormal ears and nose, ureteral [hindawi.com]

  Ruiz-Maldonado R, Tamayo L: Aplasia cutis congenita, spastic paralysis, and mental retardation. Am J Dis Child 1974;128: 699-701. [wellpath.uniovi.es]

If there is any concern for underlying defects on ultrasound, further workup with MRI is warranted. [statpearls.com]

CHART 1 Classification of Aplasia cutis congenita by Frieden We recommend the following procedure for ACC workups: lab investigations are within normal range and there are no specific tests radiographs of the scalp, extremities should be performed in [scielo.br]

Treatment for ACC varies depending on the condition of the infant (5), although conservative treatment is the most popular regimen. [spandidos-publications.com]

The treatment strategies that are currently possible are conservative treatment, surgical treatment, or the two combined. In addition, initial treatment can be separated from late reconstructive treatments. [ncbi.nlm.nih.gov]

Treatment options range from nonintervention, conservative treatments, surgical treatment, or a combination of surgical and nonsurgical interventions.[18] Large defects of the scalp or scalp defects that involve the underlying skull or dura, with exposure [journals.lww.com]

Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. [analesdepediatria.org]

Because both conservative and surgical treatments have a high risk of multiple complications there is no agreed method of treatment for aplasia cutis congenita. [woundsresearch.com]

Surgical closure may be required for large or multiple defects.2 The prognosis of ACC is usually excellent; however, if associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of those conditions.1 In [casereports.bmj.com]

Because there are only individual reports for the other forms, it is difficult to calculate a mortality rate or to give an individualized prognosis. [ijponline.biomedcentral.com]

Long-term prognosis for Adams-Oliver syndrome is difficult to predict: it is not adequately described in medical literature due to a dearth of cases. [dermnetnz.org]

If the condition is associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of the other condition(s). [3] Major complications of aplasia cutis congenita are rare, but can include hemorrhage, secondary [rarediseases.info.nih.gov]

Prognosis Less severe cases usually resolve within weeks to months, but alopecia persists. Underlying or associated defects may significantly affect mortality and morbidity. [orpha.net]

Etiology Etiology is manifold; genetic factors (including causal mutations in the genes BMS1 (10q11.21) and DLL4 (15q15.1), identified in a few families), teratogens, amniotic adhesion, vascular anomalies, pharmacological agents (e.g. thyreostatics as [orpha.net]

Frank defects, absence of the skin, must invoke far more powerful, more incisive, genetic influences or have as etiology active trauma, physical violence, or other external forms of tissue destruction.1 A variety of physical and endogenous factors may [jamanetwork.com]

The etiology of ACC is likely multifactorial. [statpearls.com]

The exact etiology is still unknown, and histopathologic features are poorly defined. Methods A series of 10 cases from nine patients was analyzed to characterize the clinicopathologic spectrum and age-related changes of ACC of the scalp. [onlinelibrary.wiley.com]

Introduction Causes and Symptoms Subtypes of ACC Epidemiology Diagnosis and Treatment References Further Reading Aplasia cutis congenita or ACC is a rare congenital condition. [news-medical.net]

Summary Epidemiology Worldwide ACC prevalence is approximately 1/10,000 live births. Clinical description ACC is noticed immediately at birth and usually presents as a solitary lesion on or near the vertex. [orpha.net]

Complete Issue (PDF) View this article with LENS PreviousNext Email Article Request Permissions Article Alerts Citation Tools Quiz Print Download PDF Insight Alerts Table of Contents Jump to section Article Abstract Educational Gaps Objectives Definition Epidemiology [neoreviews.aappublications.org]

[…] skull defect plus cutis marmorata telangiectatica congenital plus limb defects plus cardiac anomalies. [6] Bart syndrome is ACC of lower extremities plus epidermolysis bullosa. [7] Setleis syndrome is bilateral temporal ACC plus "leonine" facies. [8] Epidemiology [statpearls.com]

Unlike the scalp involvement pattern, there are little epidemiologic data delineating the frequency of other distributions.2 Here, we reported a rare presentation of type V ACC in a newborn with extensive and symmetrical absence of the skin on the scalp [dovepress.com]

Pathophysiology The pathomechanisms that lead to the skin defects are not well understood, but it has been speculated that a skin cell proliferation defect in areas where a steady expansion of brain structures requires rapid proliferation of the overlying [accesspediatrics.mhmedical.com]

Pathophysiology As previously stated, the exact pathophysiology of ACC is not well understood. [statpearls.com]

Lesions are usually non-inflammatory, well-demarcated and have a variable appearance depending on the size (0.5–10 cm), extent, depth and degree of healing and scarring.[1],[2] The various causative pathophysiological mechanisms include genetic factors [ijdvl.com]

Etiology Pathophysiology The exact pathophysiology for ACC remains a mystery. However, various theories have been proposed, including intrauterine trauma, vascular compromise, teratogens such as infectious agents, and medications. [dermatologyadvisor.com]

In order to prevent mortality in infants with skin defects, infection control is a priority. Antibiotics could be administered in cases with extensive lesions to prevent neonatal sepsis and improve scar tissue formation. [jogcr.com]

A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4cm (>12.6cm2) as it prevents the risk of fatal complications. [analesdepediatria.org]

The authors of the current study selected a strip of split-thickness skin measuring 0.1 mm to prevent poor healing of the donor site. [woundsresearch.com]

It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. [rarediseases.org]

To prevent infection gentle cleaning and bland ointments may be used. If infection occurs, antibiotics can be used. Larger lesions or multiple scalp defects may require surgical repair; sometimes skin or bone grafting may be required. [dermnetnz.org]