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]

A band of dark inelastic fibrous material was present within the constriction areas of the right hand (figure 1). [casereports.bmj.com]

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]

• Precocious Puberty

  Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149 [books.google.com]

• Pediatric Disease

  Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. [books.google.com]

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

[…] hypoplasia (Goltz syndrome), • amniotic band disruption complex, • oculocerebrocutaneous (Delleman) syndrome, • scalp-ear-nipple syndrome (Finlay-Mark syndrome), • Kabuki syndrome, • 46XY gonadal dysgenesis We recommend the following procedure for ACC workups [ncbi.nlm.nih.gov]

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Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. [books.google.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

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]

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]

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]

Prognosis The prognosis for aplasia cutis congenita (ACC) is usually excellent. If the defect is small, recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. [emedicine.medscape.com]

Etiology Etiology is manifold; genetic factors, teratogens, amniotic adhesion, vascular anomalies, pharmacological agents (e.g. methimazole, benzodiazepines), intrauterine trauma and infections have all been implicated. [orpha.net]

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]

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

The etiology of the ACC remains uncertain, but the most likely hypotheses are an anormaly either of closure of the neural tube or of the prenatal vascular development [4]. [imagejournals.org]

[…] has been clarified yet, due to multiple etiological factors involved in the diseases process, as like Genetic factors, intrauterine trauma, infection, compromised vasculature to the skin, medications and teratogens (methimazole, carbimazole, misoprostol [ijpd.in]

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

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[…] 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]

Early treatment is recommended to prevent complications such as sagittal sinus haemorrhage, infection, fluid and electrolyte imbalances, or thermal imbalances.2 The aim of this study was to describe the clinical and epidemiological characteristics of [analesdepediatria.org]

Epidemiology Frequency Aplasia cutis congenita (ACC) is an uncommon anomaly of newborns. [emedicine.medscape.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]

Pathophysiology and treatment. Yale J Biol Med. 1993; 66 :143–155. [ PMC free article ] [ PubMed ] [ Google Scholar ] 9. Weedon D. Skin pathology. 1st ed. New York: Churchill-Livingstone; 1997. [ Google Scholar ] 10. Bridges AG, Mutasim DF. [ncbi.nlm.nih.gov]

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]

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]

Repair using skin flaps and grafts is only recommended for larger defects, such as those extending down to the dura mater, to prevent any hemorrhage and infection. [orpha.net]

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 and promote healing, the defect was kept moist and covered at all times, and it was treated with surgical debridement when necessary. [ncbi.nlm.nih.gov]