Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 3067  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
Table of Contents 
CASE REPORT
Year : 2022  |  Volume : 67  |  Issue : 3  |  Page : 287-289
Atypical presentation of cystic fibrosis in an infant


Department of Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India

Date of Web Publication22-Sep-2022

Correspondence Address:
Bandya Sahoo
Department of Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar - 751015, Odisha
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.IJD_243_17

Rights and Permissions

   Abstract 


Dermatitis as an initial manifestation of cystic fibrosis (CF) is unusual. The eruption is usually first noted in the perineum anywhere from several days to few months after birth. It subsequently spreads to the extremities and trunk. We report a 2-month-old male baby who presented with failure to thrive, hypoproteinemia, anemia, and a cutaneous eruption resembling acrodermatitis enteropathica. Oral zinc supplementation resulted in temporary resolution of the dermatitis. A further workup revealed the diagnosis of CF. The rash was responsive to nutritional and pancreatic enzyme supplementation.


Keywords: Cystic fibrosis, dermatitis, failure to thrive


How to cite this article:
Sahoo B, Jain MK, Mishra R, Patnaik S. Atypical presentation of cystic fibrosis in an infant. Indian J Dermatol 2022;67:287-9

How to cite this URL:
Sahoo B, Jain MK, Mishra R, Patnaik S. Atypical presentation of cystic fibrosis in an infant. Indian J Dermatol [serial online] 2022 [cited 2022 Sep 30];67:287-9. Available from: https://www.e-ijd.org/text.asp?2022/67/3/287/356730





   Introduction Top


Patients with cystic fibrosis (CF) classically present with pulmonary disease and exocrine pancreatic insufficiency. Dermatitis as an initial manifestation of CF is rare and has been previously reported in 25 patients.[1],[2] Cutaneous manifestations of malnutrition have been attributed to deficiencies of protein, zinc, and essential fatty acids.[3],[4] Protein-energy malnutrition (PEM) occurs in 5% to 13% of infants with CF and is associated with increased morbidity and mortality.[5],[6] Prompt diagnosis and initiation of treatment is necessary to prevent the increased morbidity and mortality associated with this condition. We report a 2-month-old male infant who presented with failure to thrive and dermatitis as initial manifestation who later had two episodes of bronchiolitis in 2 months before he was diagnosed as CF.


   Case Report Top


A 2-month-old male infant was admitted with failure to thrive and dry scaling erythematous reddish macules in perineal area, thigh, and buttock since 18 days of life. He was a term baby, appropriate for gestational with birth weight 2.6 kg [50th percentile]; birth length, 50.8 cm [60th percentile]) and born to nonconsanguineous parents. The baby was exclusively breastfed. After 18 days of life, he developed a rash that initially started as a small erythematous macule over the genitalia that subsequently spread to involve the entire buttocks and thighs. He was diagnosed as a case of acrodermatitis enteropathica and started on oral zinc supplementation with some improvement. At 1 month and 18 days, the baby was admitted to a hospital with recurrent vomiting, failure to thrive and respiratory distress. Blood investigation showed anemia (hemoglobin 6.6 gm/dL), lymphocytic leukocytosis (total leukocyte count- 18,900/μL). Rest of the septic screening and chest X-ray was within normal limit. Arterial blood gas, thyroid function test, and screening for metabolic disorders were also normal. The baby was diagnosed as a case of bronchiolitis with gastroesophageal reflux disease. He was treated with blood transfusion, humidified oxygen, and proton pump inhibitor and referred to our hospital for further workup. On admission weight was 2.8 kg, he was mildly tachypneic with no oxygen requirement. An erythematous plaques like rash with overlying desquamation covering the buttocks and genitourinary region was seen. There was no history of loose motion. Laboratory investigation showed: Hemoglobin, 10.6 g/dL, white blood cell count- 22,210/μL, total protein 3.0 g/dL, albumin 1.2 g/dL, aspartate aminotransferase 402 U/L, alanine aminotransferase 112 U/L. Sweat chloride was elevated at 80 mEq/L (normal: <60). We did a screening for inborn error of metabolism by Fluoro Immunoassay which was 115.2 ug/L, that is, positive (normal <90) for CF. Sweat chloride was elevated at 80 mEq/L (normal <60). Mutation analysis for CF was negative for deltaF 508.

The infant was initially started on nasogastric tube feeding for malnutrition. Later breast feeding was given along with nutritional and enzyme supplements. The rash improved and baby started gaining weight [Figure 1] and [Figure 2].
Figure 1: An erythematous plaques like rash with overlying desquamation covering the buttocks and genitourinary region

Click here to view
Figure 2: Erythematous macule over the genitalia and buttock resembling acrodermatitis enteropathica

Click here to view



   Discussion Top


The dermatitis associated with CF may mimic acrodermatitis enteropathica, an autosomal recessive primary zinc deficiency disorder. This usually manifests in infancy as an eczematous periorificial and acral dermatitis but the rash in CF is more widespread with no changes in mucous membranes or nails. Low zinc levels in CF may be attributed to decreased release and absorption of zinc from dietary protein secondary to pancreatic insufficiency.[7] The documented low levels may also be secondary to low albumin levels, the main serum protein carrier of zinc.

Altered levels of prostaglandins may be the common underlying cause of this skin findings.[8] Epidermal homeostasis is altered due to deficiency in EFAs and its metabolites.[9] Zinc also affects the pathway and influences the production of eicosanoids and other biologically active metabolites. Multiple nutritional deficiencies, the aberrant production of prostaglandins and free radical mediated damage to cellular membranes may be pathogenetic in the rash of CF. The exact mechanism has for this manifestation is yet to be identified.

CF is considered to be rare among individuals originating from the Indian subcontinent. Although ΔF508 is the most common genetic mutation in the Caucasian CF population, it is less frequent in individuals of Asian-Indian origin. The frequency of ΔF508 in Indian group varies from 19% to 44%. Prasad et al.[10] documented that delta F508 mutation represents only 24% of the analyzed CF alleles. As there are >1500 mutations in the CFTR gene with a low percentage of delta F508 in Indian group and only two mutations were tested in our patient, the diagnosis of CF cannot be ruled out. The earliest presentation of CF with dermatitis has been reported by Milankov et al. at the age of 2 months. Our patient presented with rash as early as 18 days of life.


   Conclusion Top


CF should be considered as a possible diagnosis in any infant presenting with a rash and other signs of malnutrition. This rare presentation increases insight into the disease. Recognition of rash as a sign of CF particularly in patients having other signs of protein-energy malnutrition will allow earlier diagnosis and treatment of these patients and may improve their outcome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Wenk KS, Higgins KB, Greer KE. Cystic fibrosis presenting with dermatitis. Arch Dermatol 2010;146:171-4.  Back to cited text no. 1
    
2.
Lovett A, Kokta V, Maari C. Diffuse dermatitis: An unexpected initial presentation of cystic fibrosis. J Am Acad Dermatol 2008;58(2 Suppl):S1-4.  Back to cited text no. 2
    
3.
Darmstadt GL, Schmidt CP, Wechsler DS, Tunnessen WW, Rosenstein BJ. Dermatitis as a presenting sign of cystic fibrosis. Arch Dermatol 1992;128:1358-64.  Back to cited text no. 3
    
4.
Hansen RC, Lemen R, Revsin B. Cystic fibrosis manifesting with acrodermatitis enteropathica-like eruption: Association with essential fatty acid and zinc deficiencies. Arch Dermatol 1983;119:51-5.  Back to cited text no. 4
    
5.
Nielsen OH, Larsen BF. The incidence of anemia, hypoproteinemia, and edema in infants as presenting symptoms of cystic fibrosis: A retrospective survey of the frequency of this symptom complex in 130 patients with cystic fibrosis. J Pediatr Gastroenterol Nutr 1982;1:355-9.  Back to cited text no. 5
    
6.
Abman SH, Accurso FJ, Bowman CM. Persistent morbidity and mortality of protein calorie malnutrition in young infants with CF. J Pediatr Gastroenterol Nutr 1986;5:393-6.  Back to cited text no. 6
    
7.
Zedek D, Morrell DS, Graham M, Goodman D, Groben P. Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. J Am Acad Dermatol 2008;58 (2 Suppl):S5-8.  Back to cited text no. 7
    
8.
Lemen RJ, Gates AJ, Mathe AA, Waring WW, Hyman AL, Kadowitz PD. Relationships among digital clubbing, disease severity and serum prostaglandins F2a and E concentrations in cystic fibrosis patients. Am Rev Respir Dis 1978;117:639-46.  Back to cited text no. 8
    
9.
Ziboh VA, Cho Y, Mani I, Xi S. Biological significance of essential fatty acids/prostanoids/lipoxygenase-derived monohydroxy fatty acids in the skin. Arch Pharm Res 2002;25:747-58.  Back to cited text no. 9
    
10.
Prasad R, Sharma H, Kaur G. Molecular basis of cystic fibrosis disease: An Indian perspective. Indian J Clin Biochem 2010;25:335-41.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (753 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed136    
    Printed4    
    Emailed0    
    PDF Downloaded9    
    Comments [Add]    

Recommend this journal