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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 1  |  Page : 36-38

Hypohidrotic ectodermal dysplasia with unilateral empyema


Department of Pediatric Allergy, Pulmonology and Intensive Care, Shakun Clinic Children's Hospital, Santbhoomi Co-op Society, Nigadi, Pune, Maharashtra, India

Date of Web Publication2-May-2014

Correspondence Address:
Kadam R Kadam
Shakun Clinic Children's Hospital, Santbhoomi Co-op Society, Nigadi, Pune - 411 044, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.131839

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  Abstract 

Ectodermal Dysplasia (ED) is a group of rare disorders that affects various tissues of ectodermal origin. The commonest being hypohidrotic (anhydrotic) ED. We report a case of 2 year old female child, brought with complaints of cough, cold and fever since 1 week and breathlessness that preceeded 3 days before admission. There was h/o heat intolerance, and hypohydrosis. The other two siblings were unaffected. Examination, revealed a febrile, tachypnoeic, tachycardic child, with sparse hair and eyebrows, coarse dry paper-like skin, and periorbital hyperpigmentation. Dentition included 4 peg like incisors. Respiratory examination revealed decreased air entry on the left side and crepitations over the right side. Chest x-ray and ultrasonography were consistent with left sided pleural effusion. Pathological and biochemical examination of pleural fluid were suggestive of empyema. Other systems were normal. Treatment included intercostal drainage and antibiotics for a period of four weeks in a cool environment. Symptoms resolved without sequelae and tube was removed on 5 th day of stay. Skin biopsy corroborated the diagnosis of ED. Immunoglobin profile was normal. Mutational analysis could not be done. This case is being reported due to a rare occurrence of Hypohidrotic ED and its much rarer association with underlying empyema.

Keywords: Ectodermal dysplasia, empyema, hypohidrotic ectodermal dysplasia


How to cite this article:
Kadam KR. Hypohidrotic ectodermal dysplasia with unilateral empyema. Indian J Paediatr Dermatol 2014;15:36-8

How to cite this URL:
Kadam KR. Hypohidrotic ectodermal dysplasia with unilateral empyema. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Oct 25];15:36-8. Available from: https://www.ijpd.in/text.asp?2014/15/1/36/131839


  Introduction Top


Ectodermal dysplasia (ED) is a group of a rare disorder that affects various tissues of ectodermal origin. The most common form is hypohidrotic ectodermal dysplasia (anhydrotic) (HED).


  Case report Top


This was a case report of a 2-year-old female child, youngest of the 3 children of a third degree consanguineous marriage, brought with the complaints of cough cold and fever since 1 week and breathlessness, which developed 3 days before admission. She also had heat intolerance and no sweating. She was developmentally normal. The other two siblings were unaffected.

On Examination

she was febrile, tachypnoeic and tachycardic, had sparse hair and eyebrows, coarse dry paper-like skin, only 4 peg-like incisors, periorbital hyper pigmentation and frontal bossing [Figure 1], [Figure 2], [Figure 3].
Figure 1: Peg like incisor teeth, two on each jaw, parchment like dry shiny skin

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Figure 2: Cracked heels. Dry parchment skin

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Figure 3: Sparse hair and malnourished child

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S/E air entry on the left was decreased and child had right-sided crepitations. Other systems were normal.

Investigations: Chest X-ray revealed left sided pleural effusion [Figure 4]. Ultrasonography of thorax showed left moderate pleural effusion with underlying consolidation. Pleural fluid had >1000 cells; nearly 60% lymphocytes and 40% neutrophils, raised lactate dehydrogenase and proteins, suggestive of empyema. Immunoglobin profile was normal.
Figure 4: Left pleural fluid collection (empyema)

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Inter costal drain was inserted and pus drained [Figure 5]. Child received antibiotics for total 4 weeks. Symptoms resolved without sequelae and the tube was removed on the 5 th day of stay.
Figure 5: Chest X-ray with left intercostal chest drainage tube in situ

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Child was kept in cool temperatures throughout stay. Skin biopsy was suggestive of hypohidrosis. Mutational analysis could not be done.

Patient was discharged with relief of symptoms and prescribed oral antibiotics and moisturizing solution for her skin.

This previously undiagnosed case of HED with left sided empyema fulfilled the clinical criteria of HED with a serious respiratory illness due to epithelial abnormality associated with ED.

The ED is a heterogeneous group of disorders involving defects of two or more of the following the teeth, skin and appendageal structures including hair, nails and eccrine and sebaceous gland. [1] Incidence of 1/10,000-1/100,000 live births. [2]

Clinically, ED is of two types: HED (anhydrotic) and hydrotic ectodermal dysplasia. HED is manifested as a triad of defects: Partial or complete absence of sweat glands, anomalous dentition and hypotrichosis, anodontia or hypodontia with widely spaced, conical teeth is a constant feature. [1]

Episodes of high fever in a warm environment, dry skin, sparse hypopigmented hair, frontal bossing, flattened nasal bridge are some of other features, poor development of mucous glands in the respiratory tract may result in increased susceptibility to respiratory infection.

HED is inherited in an X-linked recessive (95% cases), autosomal dominant, or autosomal recessive manner. The mode of inheritance of ED is X-linked recessive or an autosomal recessive. [1],[3] Munoz, et al. in 1997 [4] suggested random X-inactivation (Lyon hypothesis) and mosaic of functionally normal and abnormal cells. Mutations in the EDA gene, which encodes the ectodysplasin ligand or the EDA receptor, are implicated. [5],[6] The results of genetic analysis are awaited in the present case.

Incidence of pleural empyema is between 12.6 and 23/10000 admissions. [7]

HED is usually associated with recurrent respiratory infections due to deficient local immunity, but the incidence of empyema in HED has been rare and scarcely been reported.


  Acknowledgment Top


The author would like to thank Dr. Gauri Kadam, his wife, who proofread and gave her unending support.

 
  References Top

1.Gray LD. Ectodermal dysplasia. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. Behrman RE, Kliegman RM, Jenson HB, editors. 16 th ed. W. B. Saunders Company; 2000. p. 1974-1975.  Back to cited text no. 1
    
2.Sepulveda W, Sandoval R, Carstens E, Gutierrez J, Vasquez P. Hypohidrotic ectodermal dysplasia: Prenatal diagnosis by three-dimensional ultrasonography. J Ultrasound Med 2003;22:731-5.  Back to cited text no. 2
    
3.Sebai NE, Ezzine N, Khaled A, Kharfi M, Bouzgarrou A, M'halla N, et al. Dysplasie ectodermique hypo/anhidrotique: 10 observations. Tunisie médicale 2009;87:805-9.  Back to cited text no. 3
    
4.Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997;61:94-100.  Back to cited text no. 4
    
5.Priolo M, Laganà C. Ectodermal dysplasias: A new clinical-genetic classification. J Med Genet 2001;38:579-85.  Back to cited text no. 5
    
6.Agarwal S, Gupta S. Hypohidrotic ectodermal dysplasia. Indian Dermatol Online J 2012;3:125-7.  Back to cited text no. 6
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7.Schultz KD, Fan LL, Pinsky J, Ochoa L, Smith EO, Kaplan SL, et al. The changing face of pleural empyemas in children: Epidemiology and management. Pediatrics 2004;113:1735-40.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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