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]

• Epilepsy

  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]

  She was born of the first regular pregnancy of a 29-year-old mother who had epilepsy in her youth and was on valproate therapy. [journals.lww.com]

  AJDC 1985;139: 509-513 Caksen H, Kurtoglu S: A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation. Acta Neurol Belg 2000;100: 252-255. [wellpath.uniovi.es]

• Fatigue

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

• Skin Disease

  It also covers congenital and hereditary defects, pigmentation abnormalities, keratinization defects, environmental skin diseases, and skin tumors. [books.google.com]

  Additional relevant MeSH terms: Layout table for MeSH terms Ectodermal Dysplasia Abnormalities, Multiple Congenital Abnormalities Skin Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases [clinicaltrials.gov]

  Aplasia cutis congenita — Emedicine On DermNet NZ Naevi (birthmarks) Other websites Aplasia cutis congenita — Medscape Reference Aplasia cutis congenita — OMIM # 107600 Books about skin diseases Books about the skin Dermatology Made Easy book [dermnetnz.org]

  Keywords: Ectodermal dysplasia, Scalp, Skin diseases INTRODUCTION Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin. [ncbi.nlm.nih.gov]

  Where to Start DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. [rarediseases.info.nih.gov]

• Irritability

  Medical attention should be sought if: the child has a temperature of more than 37.5°C the child is irritable or not feeding as well as usual swelling or redness near the site is visible or there is any oozing the child is in a lot of pain and pain relief [gosh.nhs.uk]

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]