<?xml version="1.0" encoding="UTF-8"?><!DOCTYPE article  PUBLIC "-//NLM//DTD Journal Publishing DTD v3.0 20080202//EN" "http://dtd.nlm.nih.gov/publishing/3.0/journalpublishing3.dtd"><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" dtd-version="3.0" xml:lang="en" article-type="research article"><front><journal-meta><journal-id journal-id-type="publisher-id">OJPed</journal-id><journal-title-group><journal-title>Open Journal of Pediatrics</journal-title></journal-title-group><issn pub-type="epub">2160-8741</issn><publisher><publisher-name>Scientific Research Publishing</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.4236/ojped.2017.71007</article-id><article-id pub-id-type="publisher-id">OJPed-74997</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Medicine&amp;Healthcare</subject></subj-group></article-categories><title-group><article-title>
 
 
  Isolated Aplasia Cutis Congenita on Left Foot in Chinese Neonate
 
</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Siddiq</surname><given-names>Muhammad</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>A.</surname><given-names>Sultana</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Mi</surname><given-names>Xiao</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Naz</surname><given-names>Iram</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Xian-Hua</surname><given-names>Piao</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Huihui</surname><given-names>Duan</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Li</surname><given-names>Liu</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib></contrib-group><aff id="aff4"><addr-line>Department of Aesthetic Plastic and Craniofacial Surgery, The First Affiliated Hospital, Xi’an Jiaotong University College of 
Medicine, Xi’an, China</addr-line></aff><aff id="aff1"><addr-line>Department of Neonatology, The First Affiliated Hospital, Xi’an Jiaotong University College of Medicine, Xi’an, China</addr-line></aff><aff id="aff3"><addr-line>The Division of Newborn Medicine, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, USA</addr-line></aff><aff id="aff2"><addr-line>Institute of Child Health and SSF Hospital Mirpur 2, Affiliated Hospital by Bangladesh College of Physician and Surgeon and Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh</addr-line></aff><author-notes><corresp id="cor1">* E-mail:<email>siddiq363@yahoo.com(SM)</email>;<email>liuli918@163.com(LL)</email>;</corresp></author-notes><pub-date pub-type="epub"><day>10</day><month>02</month><year>2017</year></pub-date><volume>07</volume><issue>01</issue><fpage>44</fpage><lpage>50</lpage><history><date date-type="received"><day>January</day>	<month>7,</month>	<year>2017</year></date><date date-type="rev-recd"><day>Accepted:</day>	<month>March</month>	<year>27,</year>	</date><date date-type="accepted"><day>March</day>	<month>30,</month>	<year>2017</year></date></history><permissions><copyright-statement>&#169; Copyright  2014 by authors and Scientific Research Publishing Inc. </copyright-statement><copyright-year>2014</copyright-year><license><license-p>This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/</license-p></license></permissions><abstract><p>
 
 
  Aplasia Cutis Congenita (ACC) is a rare condition characterized by absence of skin layers, usually on the scalp, but can also affect the foot. ACC can occur as an isolated condition or in the presence of the other congenital anomalies. Here we describe a case of a 1-day-old baby boy with an isolated ACC of the left foot, with no family or siblings positive disease history. The patient was managed by both conservatively and surgically until the defect has formed scar tissue 5 months later.
 
</p></abstract><kwd-group><kwd>Isolated Congenital Cutis Aplasia</kwd><kwd> Congenital Abnormality</kwd><kwd> Dermatology</kwd><kwd> Pediatrics</kwd></kwd-group></article-meta></front><body><sec id="s1"><title>1. Introduction</title><p>Aplasia Cutis Congenita (ACC) is a rare congenital abnormality involving variant layers of the skin, mostly as a solitary lesion involving the midline over the skull vertex [<xref ref-type="bibr" rid="scirp.74997-ref1">1</xref>] . May occur in other sites as well as the chest, abdomen, or limbs, less commonly, underlying periosteum and bone [<xref ref-type="bibr" rid="scirp.74997-ref2">2</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref3">3</xref>] . It was first described in 1767 by Cordon, around 500 similar cases have been reported so far [<xref ref-type="bibr" rid="scirp.74997-ref4">4</xref>] . Frieden classified the different anomalies into 9 groups based on the number and the presence or absence of other anomalies [<xref ref-type="bibr" rid="scirp.74997-ref5">5</xref>] (<xref ref-type="table" rid="table1">Table 1</xref>). The lesions in those cases are quite variable, ranging from only local absence of skin to a complete absence of epidermis, subcutaneous tissue, bone, or in some cases the dura [<xref ref-type="bibr" rid="scirp.74997-ref6">6</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref7">7</xref>] . The</p><table-wrap id="table1" ><label><xref ref-type="table" rid="table1">Table 1</xref></label><caption><title> Classification for ACC</title></caption><table><tbody><thead><tr><th align="center" valign="middle" ></th><th align="center" valign="middle" >Group</th><th align="center" valign="middle" >Associated anomalies</th><th align="center" valign="middle" >Inheritance</th></tr></thead><tr><td align="center" valign="middle" >1</td><td align="center" valign="middle" >Scalp ACC without multiple anomalies</td><td align="center" valign="middle" >Cleft lip and palate, tracheoesophageal fistula, patent ductus arteriosus, omphalocele, mental retardation, polycystic kidneys</td><td align="center" valign="middle" >Autosomal dominant or sporadic</td></tr><tr><td align="center" valign="middle" >2</td><td align="center" valign="middle" >Scalp ACC with limb abnormalities</td><td align="center" valign="middle" >Limbs reduced, syndactyly, clubfoot, encephalocele, nail dystrophy or absence, persistent cutis marmorata</td><td align="center" valign="middle" >Autosomal dominant</td></tr><tr><td align="center" valign="middle" >3</td><td align="center" valign="middle" >Scalp ACC with skin/organoid nevi</td><td align="center" valign="middle" >Epidermal nevi, corneal opacities, sclera dermoids, eyelid colobomas, mental retardation, seizures</td><td align="center" valign="middle" >Sporadic</td></tr><tr><td align="center" valign="middle" >4</td><td align="center" valign="middle" >ACC overlying embryologic malformations</td><td align="center" valign="middle" >Meningomyelocele, spinal dysraphia, cranial stenosis, leptomeningeal angiomatosis, gastroschisis, congenital midline porencephaly, ectopia of ear, omphalocele</td><td align="center" valign="middle" >Depends upon underlying condition</td></tr><tr><td align="center" valign="middle" >5</td><td align="center" valign="middle" >ACC with fetus papyraceus or placental infarcts</td><td align="center" valign="middle" >Single umbilical artery spastic developmental delay, spastic paralysis, clubbed hands and feet, amniotic bands</td><td align="center" valign="middle" >Sporadic</td></tr><tr><td align="center" valign="middle" >6</td><td align="center" valign="middle" >ACC associated with epidermolysis bullosa</td><td align="center" valign="middle" >Blistering of skin and/or mucous membranes, deformed nails, pyloric or duodenal atresia, abnormal ears and nose, ureteral stenosis, renal anomalies, amniotic bands</td><td align="center" valign="middle" >Depends upon type of epidermolysis bullosa</td></tr><tr><td align="center" valign="middle" >7</td><td align="center" valign="middle" >ACC localized to extremities without blistering</td><td align="center" valign="middle" >None</td><td align="center" valign="middle" >Autosomal dominant or recessive</td></tr><tr><td align="center" valign="middle" >8</td><td align="center" valign="middle" >ACC caused by teratogens</td><td align="center" valign="middle" >Imperforate anus (methimazole), other signs of intrauterine infection with varicella or herpes simplex</td><td align="center" valign="middle" >Not inherited</td></tr><tr><td align="center" valign="middle" >9</td><td align="center" valign="middle" >ACC associated with congenital syndromes</td><td align="center" valign="middle" >Trisomy 13, 4p-syndrome, ectodermal dysplasia, focal dermal hypoplasia, amniotic band disruption complex, XY gonadal dysgenesis, Johanson-Blizzard syndrome</td><td align="center" valign="middle" >Depends upon Syndrome</td></tr></tbody></table></table-wrap><p>incidence of ACC is estimated as 1 per 10,000 live births [<xref ref-type="bibr" rid="scirp.74997-ref1">1</xref>] . This occurs frequently in females. The etiology remains unclear so far; however, both genetic and environmental causes have been implicated, including vascular blood supply, a sudden arrest of midline embryological development, and failure in neural tube closure, and syphilis has at one time contributed as the cause [<xref ref-type="bibr" rid="scirp.74997-ref1">1</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref8">8</xref>] . Rupture of amniotic membrane in an early time, forming amniotic bands, may also be from the cause [<xref ref-type="bibr" rid="scirp.74997-ref5">5</xref>] . A number of teratogenic drugs such as Methimazole, a Thiomidazole derivative used as an antithyroid agent, have shown to be involved [<xref ref-type="bibr" rid="scirp.74997-ref9">9</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref10">10</xref>] . There are similar cases, classified as being of an autosomal-dominant inheritance [<xref ref-type="bibr" rid="scirp.74997-ref11">11</xref>] . Establishing a diagnosis is usually based on the findings of the clinical examination, typically presenting as a hairless, smooth skin defect covered up by atrophic tissue or a dark colored eschar. Superficial defects presenting as an ulcer are usually treated conservatively. Extensive or deep defects may require reconstruction of the scalp area or the use of bone transplants.</p></sec><sec id="s2"><title>2. Case Summary</title><p>A 4200-g boy was delivered by a 27-year-old mother, gravida 1 para 0, by LUCS at 39 weeks of gestation due to oligohydramnios in changan district hospital Xi’an China, at the age of 1 day, the neonate was admitted to NICU of Xi’an Jiaotong first affiliated hospital because of the morphological abnormalities and abnormal skin over the left foot and leg since birth. The medical history of neonate was unremarkable, his mother denied any history of illness during her pregnancy except she had high blood pressure (140/95) before the 1 day of delivery, infection or drug intake including Methimazole or NSAIDS. The neonate didn’t suffer any other feeding difficulties or abnormalities. Upon the local examination the defect was solitary, localized with an approximately 5 &#215; 5 cm in size and irregular in shape. The patient was treated with conservative methods in the beginning like; local therapy and non-invasive debridement of the lesion, which included application of topical antibiotic ointment and gentle water cleansing. Although the conservative methods were showing gradually improvement but surgical treatment were also under consideration for further improvement due to its large lesion, as it can be prevented the fatal complications and the cosmetic results are usually better.</p><sec id="s2_1"><title>2.1. On Examination</title><p>T 35.6, P 124/min, R 45/min, BP 68/41 mmHg, WT 4200 g, head circumference 35.0 cm, length 52.0 cm, chest circumference, 33 cm, term baby, reflex and activity good, breathing well, crying and color is normal, O<sub>2</sub> saturation 96% on room air, left foot skin damage (<xref ref-type="fig" rid="fig1">Figure 1</xref>), Scalp is normal, jaundice, edema cyanosis absent. On auscultation S1 S2 audible without any audible murmur. Movement of all limbs is normal except Left foot (<xref ref-type="fig" rid="fig1">Figure 1</xref>) where skin is deficient and covered by thin red membrane and restricted movement. Other system revealed normal.</p><p><xref ref-type="fig" rid="fig2">Figure 2</xref> shows after the age of six weeks, ongoing healing with secondary intention, but at the age of 16 to 18 weeks wound healed with a small crust (<xref ref-type="fig" rid="fig3">Figure 3</xref>) and finally at the age of 5 month showing the complete secondary healing of</p><fig id="fig1"  position="float"><label><xref ref-type="fig" rid="fig1">Figure 1</xref></label><caption><title> The newborn presented with the skin defect of the left foot on day one</title></caption><graphic mimetype="image"   position="float"  xlink:type="simple"  xlink:href="http://html.scirp.org/file/7-1330550x2.png"/></fig><fig id="fig2"  position="float"><label><xref ref-type="fig" rid="fig2">Figure 2</xref></label><caption><title> Six week postnatally, showed on- going healing by secondary intention</title></caption><graphic mimetype="image"   position="float"  xlink:type="simple"  xlink:href="http://html.scirp.org/file/7-1330550x3.png"/></fig><p>the aplasia cutis Congenita defect (<xref ref-type="fig" rid="fig4">Figure 4</xref>). <xref ref-type="fig" rid="fig5">Figure 5</xref> shows the images of “Skin Biopsy”: From ulcerated lesion.</p><fig id="fig3"  position="float"><label><xref ref-type="fig" rid="fig3">Figure 3</xref></label><caption><title> At the age of 16 - 18 weeks the wound healed with a small crust remaining</title></caption><graphic mimetype="image"   position="float"  xlink:type="simple"  xlink:href="http://html.scirp.org/file/7-1330550x4.png"/></fig><fig id="fig4"  position="float"><label><xref ref-type="fig" rid="fig4">Figure 4</xref></label><caption><title> At the 5<sup>th</sup> months, showing the complete secondary healing of the aplasia cutis congenita defect</title></caption><graphic mimetype="image"   position="float"  xlink:type="simple"  xlink:href="http://html.scirp.org/file/7-1330550x5.png"/></fig><fig id="fig5"  position="float"><label><xref ref-type="fig" rid="fig5">Figure 5</xref></label><caption><title> Images of “skin biopsy”: From ulcerated lesion</title></caption><graphic mimetype="image"   position="float"  xlink:type="simple"  xlink:href="http://html.scirp.org/file/7-1330550x6.png"/></fig><table-wrap id="table2" ><label><xref ref-type="table" rid="table2">Table 2</xref></label><caption><title> Blood investigation parameters of the patient</title></caption><table><tbody><thead><tr><th align="center" valign="middle" >parameters</th><th align="center" valign="middle" >Normal ranges</th><th align="center" valign="middle" >results</th></tr></thead><tr><td align="center" valign="middle" >HBG</td><td align="center" valign="middle" >15.0 - 24.0 g/dl</td><td align="center" valign="middle" >19.8 g/dl</td></tr><tr><td align="center" valign="middle" >WBC</td><td align="center" valign="middle" >9 - 38 (&#215;103/&#181;L)</td><td align="center" valign="middle" >11,000/cumm</td></tr><tr><td align="center" valign="middle" >PLT</td><td align="center" valign="middle" >125 - 350 &#215; 109/L</td><td align="center" valign="middle" >180,000/cumm</td></tr><tr><td align="center" valign="middle" >RBS</td><td align="center" valign="middle" >80 - 180 mg/dl</td><td align="center" valign="middle" >85.9 mg/dl</td></tr><tr><td align="center" valign="middle" >USG of brain</td><td align="center" valign="middle" >normal</td><td align="center" valign="middle" >normal</td></tr><tr><td align="center" valign="middle" >X-ray of lower limb</td><td align="center" valign="middle" >normal</td><td align="center" valign="middle" >normal</td></tr><tr><td align="center" valign="middle" >CRP</td><td align="center" valign="middle" >negative</td><td align="center" valign="middle" >negative</td></tr><tr><td align="center" valign="middle" >Blood C/S</td><td align="center" valign="middle" >normal</td><td align="center" valign="middle" >normal</td></tr></tbody></table></table-wrap><p>Initial diagnosis; Macrosomia with Congenital skin defect.</p></sec><sec id="s2_2"><title>2.2. Investigation</title><p><xref ref-type="table" rid="table2">Table 2</xref> showed blood investigation parameters of the patient in the given number.</p></sec></sec><sec id="s3"><title>3. Discussion</title><p>ACC occurs as a solitary defect; it can happen alone or in the presence of syndromic congenital anomalies. The involvement of the scalp area may lead to the understanding of the etiology. Upon our review to the literature available, Cases were often characterized by an entire absence of skin. Histologically, we found that most of the lacking tissues belonged to epithelial ectoderm. The condition could be associated with chromosomal defects [<xref ref-type="bibr" rid="scirp.74997-ref12">12</xref>] . Some researches show the association with gestational conditions such as an intrauterine vascular ischemia, amniotic adherences, and viral infections [<xref ref-type="bibr" rid="scirp.74997-ref13">13</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref14">14</xref>] . A rise of alpha-fetoprotein levels and a distinct amniotic fluid acetylcholinesterase band were found in recent article as markers for ACC [<xref ref-type="bibr" rid="scirp.74997-ref15">15</xref>] . Also, a number of drugs have been linked to ACC. For example, the use of cocaine during pregnancy can lead to vasoconstriction of the placenta or disruption of the fetus vascularity, causing the cranial defects and anomalies of the central nervous system (CNS) [<xref ref-type="bibr" rid="scirp.74997-ref16">16</xref>] . Methimazole, a drug used for the treatment of hyperthyroidism, may show some skin affection. Benzodiazepines use is also linked with ACC as described by Mart&#237;nez-Lage et al. [<xref ref-type="bibr" rid="scirp.74997-ref7">7</xref>] . Surgical treatment requires careful preoperative planning [<xref ref-type="bibr" rid="scirp.74997-ref17">17</xref>] . Minimal superficial lesions are treated conservatively to heal gradually by epithelialization and result with a hypertrophic or atrophic scar. Tissue expander insertion may be necessary in extensive lesions reaching the scalp, whereas the one deep enough to reach the brain, bone, and meningeal transplants may be indicated [<xref ref-type="bibr" rid="scirp.74997-ref8">8</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref18">18</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref19">19</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref20">20</xref>] . Deep defects overlying the sagittal sinus are indicators for urgent surgical intervention to prevent potentially lethal infections or hemorrhage [<xref ref-type="bibr" rid="scirp.74997-ref7">7</xref>] [<xref ref-type="bibr" rid="scirp.74997-ref21">21</xref>] . Grafting [<xref ref-type="bibr" rid="scirp.74997-ref22">22</xref>] and temporary use of biological dressings [<xref ref-type="bibr" rid="scirp.74997-ref23">23</xref>] and silver sulfadiazine dressings while waiting for the processes of skin and bony in growth [<xref ref-type="bibr" rid="scirp.74997-ref3">3</xref>] have been published with variable degree of success. A broad approach of therapeutic approaches are still being used for ACC. Due to the characteristics of this study we were still unable to determine that which treatment is best for ACC. On the other hand surgical management is generally preferred, especially for the large lesions, as it can prevent fatal complications and the cosmetic results are better.</p></sec><sec id="s4"><title>4. Conclusion</title><p>We believe that ACC is a disease that carries the risk of potentially fatal complications, but that these can be prevented with an appropriate treatment. Aplasia Cutis Congenita is a rare congenital disorder characterized by absence of skin, most frequently overlying the scalp. ACC can be associated with many anomalies. We report a case of a newborn with isolated leg and foot ACC, which was treated conservatively. Although neither of the parents had ACC.</p></sec><sec id="s5"><title>Acknowledgements</title><p>This work was supported by a grant from the National Natural Science Foundation of China (No. 810705390).</p></sec><sec id="s6"><title>Disclosure of Conflict of Interest</title><p>The authors declare that they have no conflict of interest regarding the publication of this article.</p></sec><sec id="s7"><title>Cite this paper</title><p>Muhammad, S., Sultana, A., Xiao, M., Iram, N., Piao, X.-H., Duan, H.H. and Liu, L. (2017) Isolated Aplasia Cutis Congenita on Left Foot in Chinese Neonate. 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