Congenital on The Scalp Essay
Congenital on The Scalp Essay
Congenital Anhidrosis
What is it?!Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder where someone is: !Unable to feel pain and temperature !Have a decreased amount of sweating or no sweating at all !Effects of CIPA !Have lots of self inflicted injuries !Slow healing from skin and bone injuries !High fevers !Seizures from high temperatures !Thick leathery skin in the palms and fingers !Patches of baldness on the scalp !Deformed nails in the fingers and toes !50% of CIPA sufferers have mental disorders
The Cause!The NTRK1 gene is responsible for nerve cells’ survival !This gene is located on cells which predominantly transmit pain !Mutations in this gene creates a protein which fails to transmit pain signals to the brain !The nerve cells then self destruct because of the lack of signals !The lack of sweating is from a loss of nerves in the sweat glands. Congenital on The Scalp Essay.
Inheritance!CIPA is an autosomal recessive disease !CIPA is a rare disease, that affects about 100 people in the world !Prevalence is unknown !Key: !C: Doesn’t have CIPA !c: Doesn’t have CIPAccccccccccccCCcCcCccCcCcCcCCCCccCccc
Treatment!There is no cure for CIPA !Maintaining regular body temperature !Preventing injuries !Treating injuries as quickly as possible
Diagnosis!Prenatal testing is possible !DNA testing for carriers !Tests are done looking at NTRK1, to see if any mutations take place !Tests are often taken when a child !Has lots of injuries !Lots of fevers !Lack of sweating
Interesting facts!Generally children don’t live past 3 years old !Sufferers that get past 3, live until about 25
Bibliography !https://www.ncbi.nlm.nih.gov/books/NBK1769/ !http://www.livingnaturally.com/ns/DisplayMonograph.asp?StoreID=3ED1FF6A18BD42979FFF73C8E8CD4512&DocID=condition-cipa#DIAGNOSIS !https://science.howstuffworks.com/life/inside-the-mind/human-brain/cipa3.htm !https://www.ncbi.nlm.nih.gov/books/NBK1769/ !https://rarediseases.info.nih.gov/diseases/3006/congenital-insensitivity-to-pain-with-anhidrosis !https://www.mayoclinic.org/diseases-conditions/anhidrosis/symptoms-causes/syc-20369400 !https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis#diagnosis !http://neurosciencefundamentals.unsw.wikispaces.net/Congenital+insensitivity+to+pain !http://www.nydailynews.com/life-style/health/rare-genetic-disorder-cipa-prevents-12-year-old-girl-ashlyn-blocker-feeling-pain-article-1.1109057 (image) !https://barefootmeds.wordpress.com/2015/04/10/i-read-a-book-about-cipa/ (image)
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A family with multiple congenital scalp defects, over two generations and probably genetically determined, is described. Although alarming in appearance, surgical intervention is not indicated at least for small lesions. The risk of haemorrhage and meningitis is emphasized. Congenital on The Scalp Essay.
Abstract
Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp and a small, atrophic hairless scar appeared 6 months later (approximately 5cm in length) at the site of the previous tumor.
CASE REPORT
A 4 day-old boy was sent to us for an opinion on an ulcerated-crusted tumor on the vertex, observed 24 hours prior to the call from the Neonatology Department
Ulcerated tumor on the scalp
Dermatological examination revealed a 5.6-cmdiameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp, 1.5cm left of the midline. The newborn was otherwise healthy, with APGAR 10 at birth, young parents with no consanguinity or known medical problems. No visible or palpable scalp defect was found at the first examination. Local wound care was done with simple povidine iodine. The clinical diagnosis was aplasia cutis congenital and the main task (a difficult one) was to reassure the parents and medical staff from the Neonatology Department, instructing them simply to wait and observe the evolution of the skin lesion.Congenital on The Scalp Essay. There were no signs of infections and/or hemorrhages; no skull defects or other abnormalities.
The parents did not agree to a skin biopsy or complete removal of the tumor despite the recommendation from pediatricians, while pediatricians from the Neonatology Department did not approve an MRI.
A reexamination was done 6 months later, revealing only a small, atrophic hairless scar of approximately 5cm in length, at the site of the previous tumor
Atrophic scar
DISCUSSION
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.1
In most cases, Aplasia cutis congenital is observed (by family members or medical staff) during the first days of life, as a single lesion on the vertex lateral to the median line, although reports of different locations (face, trunk, abdomen, limbs) have recently been published.1,3The typical lesion is small (0.5cm10cm), well circumscribed, with different aspects: circular, oval, linear or stellate, membranous (membranelike surface) or non-membranous (irregular and larger).4Aplasia cutis may be associated with defects of the underlying skull, especially when the skin lesion is larger than 10cm. This is an important clinical clue when considering associated malformations or possi-ble complications (sagittal sinus hemorrhage or thrombosis, focal infection or meningitis), important causes of death.5The lesion is non-inflammatory and circumscribed. The clinical aspect may inform about the moment of induction during pregnancy: early in the first weeks, there is time for healing and the lesion appears as an atrophic or fibrotic alopecic scar.
In some cases, deeper defects can be observed: ulcerations that go through the dermis, subcutis, periosteum, even the skull and dura, with severe complications.
The hair collar sign (distorted hair growth around a scalp lesion) is a significant indicator, raising the question of underlying injuries. The location of the ACC to the vertex can be explained partially by the existence of maximum tensile force during rapid brain growth in that region; this happens during weeks 1015 of gestation. Congenital on The Scalp Essay.
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The exact mechanism is still not completely understood, although many etiological factors have been incriminated in recent years: 4
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chromosomal abnormalities,
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traumatic mechanism,
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amniotic defects,
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intrauterine problems,
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thrombotic events, vascular alterations.6
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teratogens used in pregnancy: misoprostol, cocain, methotrexate, angiotensin-converting enzyme inhibitors, methimasol, benzodiazepines, valproic acid.7,8
Most cases are sporadic but genetic backgrounds (autosomal dominant and recessive inheritance) have also been reported; the large ulcerated lesions are often transmitted as an autosomal dominant trait.4,9In the great majority of cases, the evolution is without complications and simple wound care is suitable. Complications that can aggravate the prognosis (such as hemorrhage, local infection, meningitis or more severe sagital sinus thrombosis), are rarely reported. There have been reports of seizure and psychomotor retardation.10
However, the most important issue concerns the associated anomalies that pose many practical problems to medical staff.
There is no consensus regarding treatment. Options include monitoring and surgical intervention; but the rule is that in cases of large lesions, with or without deeper absence of substance, plastic surgery should be performed as soon as possible. Frieden proposed a classification (Chart 1) that is of great value for daily practice,5 consisting of 9 groups based on the number and location of the lesions, and the presence or absence of associated malformations. Congenital on The Scalp Essay.
