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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 8  |  Issue : 4  |  Page : 248-249

Congenital cutis laxa with ileus and cleft lip and palate


1 Department of Paediatrics, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India
2 Department of Paediatrics, VMMC and Safdarjung Hospital, New Delhi, India

Date of Submission18-Mar-2019
Date of Decision18-Apr-2019
Date of Acceptance18-Sep-2019
Date of Web Publication04-Oct-2019

Correspondence Address:
Dr. Rosina Ksoo
Ward No 6, H. No 46, Dhankheti (Malki), Shillong - 793 001 Meghalaya
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_26_19

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  Abstract 


Cutis laxa is a heterogeneous group of disorders related to abnormalities in elastic tissues. A full-term male neonate, appropriate for gestational age, was admitted in the special newborn care unit because of cleft lip and cleft palate. The baby then developed abdominal distension with feed intolerance, which is a well-described complication of cutis laxa. The baby also developed occipital decubitus ulcers within the 1st week of life. To our knowledge, this is the first reported case of decubitus ulcers in the case of cutis laxa.

Keywords: Cleft palate, cutis laxa, ileus, neonate, pressure ulcer


How to cite this article:
Ksoo R, Bhatt M, Chellani H, Arya S. Congenital cutis laxa with ileus and cleft lip and palate. J Clin Neonatol 2019;8:248-9

How to cite this URL:
Ksoo R, Bhatt M, Chellani H, Arya S. Congenital cutis laxa with ileus and cleft lip and palate. J Clin Neonatol [serial online] 2019 [cited 2019 Oct 19];8:248-9. Available from: http://www.jcnonweb.com/text.asp?2019/8/4/248/268583




  Introduction Top


Cutis laxa or generalized elastolysis or dermatomegaly is a rare, heterogeneous group of disorders related to abnormalities in elastic tissues. It can be autosomal recessive, autosomal dominant, X-linked, or acquired. There may be widespread folds of lax skin, or changes may be mild and limited in extent.[1] In cutis laxa, the skin hangs in pendulous folds giving a prematurely aged appearance. Patients have a hooked nose, everted nostrils, a long upper lip, and sagging cheeks.[2] The dominant form of cutis laxa may develop at any age and is generally benign. Patients with the more common recessive form of the disease are susceptible to severe complications, such as multiple hernias, rectal prolapse, diaphragmatic atony, diverticula of the gastrointestinal and genitourinary tracts, cor pulmonale, emphysema, pneumothoraces, peripheral pulmonary artery stenosis, and aortic dilation.[1]


  Case Report Top


A term, appropriate for gestational age male baby, born by normal vaginal delivery and normal Apgar scores, was admitted to the special newborn care unit because of left cleft lip and cleft palate. The antenatal history was uneventful. The baby was also observed to have generalized loose skin folds [Figure 1]. There were no similar complaints in the family members or the older siblings and there was no history of neonatal deaths or early infant deaths. We attribute this inheritance pattern to a possible autosomal recessive form. The baby was started on full feeding with express breast milk using a paladai, but it was observed that he developed progressive abdominal distension, feed intolerance, and ileus with an increase in abdominal girth, so feeding was withheld. Investigations done showed an abdominal radiograph with dilated bowel loops and no signs of obstruction and the ultrasound of the abdomen was normal. The chest radiograph was also normal with no evidence of emphysema or pneumothoraces. Two-dimensional echocardiography was normal too.
Figure 1: Image showing abdominal distension, cleft lip, and loose skin folds (original image)

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The baby also developed pressure ulcers on the occipital region of the scalp in the first few days of life [Figure 2]. This pressure sores progressed rapidly to Stage 4 pressure injury: full-thickness skin and tissue loss as per the National Pressure Ulcer Advisory Panel.[3] Unfortunately, further investigations in regard to genetic testing could not be performed due to financial constraints. The baby was managed conservatively with daily dressing and frequent position change and showed gradual improvement.
Figure 2: Occipital pressure ulcer (original image)

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  Discussion Top


Congenital cutis laxa is a heterogeneous group of disorders all of which are rare. It is estimated to occur in 1 in 1,000,000 persons in the general population, but the exact prevalence is not known.[4]

Our patient had the typical skin laxity that clinically favors cutis laxa.[5] An additional gross congenital malformation that was noticed in our case was the presence of left cleft lip and palate. There was a similar association of congenital cutis laxa with cleft palate reported by Genevieve et al.[6] Our patient had developed ileus along with feed intolerance, which has similarly been observed by the previous investigators.[3],[4]

Our case had developed pressure ulcers within 1st week of life; this early development of pressure ulcer could be attributed to the nutritional deficiency on the background of cutis laxa because we could not establish full feeding for this baby within the 1st week of life. Nutritional deficiency is considered as one of the risk factors in neonates for the development of pressure ulcers.[7],[8] The time to development of conventional pressure ulcers (other than pressure ulcers occurring due to devices) seen in hospitalized term neonates was found to be 63.2 ± 12.3 days by Visscher and Taylor [9] The much earlier onset of pressure ulcers could be due to the underlying skin disease. The pressure ulcers located in our case were in the occipital areas which were the most common area for the development of pressure ulcers in infants and young children.[10]


  Conclusion Top


To the best of our knowledge, this is the first reported case of decubitus ulcers in a case of cutis laxa occurring within 1 week of life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's guardian has given consent for the child's images and other clinical information to be reported in the journal. The patient's guardian understands that the child's name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Galbraith SS. Diseases of the dermis. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, editors. Nelson Textbook of Pediatrics. First South Asia Edition. Vol. 3. New Delhi, India: Elseviers; c2016. p. 3179.  Back to cited text no. 1
    
2.
Monahan TP, Cohen BA, Siegfried EC. Congenital and hereditary disorders of the skin. In: Taeusch HW, Ballard RA, Gleason CA, editors. Avery's Diseases of the Newborn. 8th ed. Pennsylvania: Saunders Mosby; c2015. p. 1493.  Back to cited text no. 2
    
3.
NPUAP Pressure Injury Stages. Available from: http://www.npuap.org/resources/educational-and-clinical-resources/npuap-pressure-injury-stages/. [Last accessed on 2017 Jun 23].  Back to cited text no. 3
    
4.
Available from: https://rarediseases.org/rare-diseases/cutis-laxa/accessed 6/7/2017. [Last accessed on 2017 Jul 06] and [Last accessed on 2019 Sep 23].  Back to cited text no. 4
    
5.
Dhale SN, Rathod AD, Sonawane S. A case report of cutis laxa. Bombay HospJ2012;54:186-7.  Back to cited text no. 5
    
6.
Genevieve D, Baumann C, Huber C, Faivre L, Sanlaville D, Bodemer C, et al. A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. J Med Genet 2004;41:e77.  Back to cited text no. 6
    
7.
Stansby G, Avital L, Jones K, Marsden G, Guideline Development Group. Prevention and management of pressure ulcers in primary and secondary care: Summary of NICE guidance. BMJ 2014;348:g2592.  Back to cited text no. 7
    
8.
Baharestani MM, Ratliff CR. Pressure ulcers in neonates and children: An NPUAP white paper. Adv Skin Wound Care 2007;20:208, 210, 212, 214, 216, 218-20.  Back to cited text no. 8
    
9.
Visscher M, Taylor T. Pressure ulcers in the hospitalized neonate: Rates and risk factors. Sci Rep 2014;4:7429.  Back to cited text no. 9
    
10.
Willock J, Hughes J, Tickle S, Rossiter G, Johnson C, Pye H. Pressure sores in children – The acute hospital perspective. J Tissue Viability 2000;10:59-62.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]



 

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Abstract
Introduction
Case Report
Discussion
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