Table of Contents  
CASE REPORT
Year : 2013  |  Volume : 6  |  Issue : 1  |  Page : 86-88  

A rare case of recurrent pyogenic liver abscess since childhood: A case of Papillon-Lefèvre syndrome


1 Department of Medicine, College of Medicine and JNM Hospital, Kalyani, Nadia, West Bengal, India
2 Department of Medicine, West Bengal Health Service, Coochbehar, West Bengal, India
3 Department of Medicine, R. G. Kar Medical College, Kolkata, West Bengal, India

Date of Web Publication14-Mar-2013

Correspondence Address:
Somak K Das
Department of Medicine, College of Medicine and JNM Hospital, Kalyani, Nadia, A/14, 2nd Floor, Katjunagar, Jadavpur, Kolkata, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.108659

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  Abstract 

Recurrent pyogenic liver abscess since childhood is an uncommon finding in clinical medicine. Papillon-Lefèvre syndrome (PLS) is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. Till date, more than 200 cases have been reported worldwide. In addition to the skin and oral findings, patients may have immune suppression and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. Pyogenic liver abscess is an uncommon presentation of this rare syndrome. We present a case of PLS presenting as recurrent pyogenic liver abscess since childhood.

Keywords: Palmo-plantar hyperkeratosis, Papillon-Lefèvre syndrome, pyogenic liver abscess


How to cite this article:
Das SK, Nath T, Ganguly P, Jana CK. A rare case of recurrent pyogenic liver abscess since childhood: A case of Papillon-Lefèvre syndrome. Med J DY Patil Univ 2013;6:86-8

How to cite this URL:
Das SK, Nath T, Ganguly P, Jana CK. A rare case of recurrent pyogenic liver abscess since childhood: A case of Papillon-Lefèvre syndrome. Med J DY Patil Univ [serial online] 2013 [cited 2019 Oct 18];6:86-8. Available from: http://www.mjdrdypu.org/text.asp?2013/6/1/86/108659


  Introduction Top


Pyogenic liver abscess is a common disorder in tropical country, but recurrent liver abscess since childhood is rare. Papillon-Lefèvre syndrome (PLS) is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. [1] Till date, more than 200 cases have been reported worldwide. In addition to the skin and oral findings, patients may have immune suppression and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. [2] A decreased chemotactic and phagocytic function of neutrophils has also been suggested. [2] Pyogenic liver abscess is an uncommon presentation of this rare syndrome. [2] Patients with PLS seem to be particularly predisposed to develop pyogenic liver abscess.


  Case Report Top


A 15-year-old young girl from remote village of South Bengal, having slightly poor physical but normal mental development, presented with recurrent history of high rise of temperature, pain at right upper quadrant of abdomen, and vomiting. She was previously admitted to hospital twice with a diagnosis of liver abscess. First, at her 7 years of age, she was diagnosed as pyogenic abscess of right lobe of liver. Secondly, at her 10 years of age, she again suffered from pyogenic liver abscess of left lobe of liver. Detailed history revealed frequent dental caries and fall-out of teeth from time to time since 3-4 years of her age, and persistent thickening, flaking, and scaling of the skin of his palms and soles for 14 years. She also complained of poor formation of saliva, poor formation of tear, recurrent conjunctivitis, alopecia, frequent pharyngitis, otitis, rhinitis, and pyogenic skin lesions since childhood. There was no history of amebic dysentery or colitis in her childhood days. The past dental history revealed that her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4-6 years. Similarly, her permanent teeth too were lost prematurely after having erupted normally. At the age of 6 years, her parents had noticed the presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands by the age of 9-10 years. The remainder of her past medical history was unremarkable. These symptoms were worse during the winter season. Her family history was unremarkable, with her siblings being normal. On examination, there were symmetrical, well-demarcated, keratotic, and confluent plaques affecting the skin of the palms and soles [Figure 1]. The skin was dry and rough on palpation. She also had chronic eczematous dermatitis in elbows and knees and few areas of hypo/hyperpigmentation of anterior and posterior part of chest. Her hair was sparse, fine, and lusterless, brittle along with alopecia; there was decreased body hair, and sparse or absent eyebrows and eyelashes. On intraoral examination, it was found that the patient's central incisors, mandibular lateral incisors, maxillary first premolars, and all permanent first molars were missing [Figure 2]. All the permanent teeth that were present exhibited marked mobility and were malformed, rudimentary, and conical or pegged teeth. Enamel defects were present with dental caries. Detailed physical and systemic examinations were unremarkable except mild to moderate pallor, mild icterus, and tender hepatomegaly. Routine hematological examinations revealed anemia, mild neutrophilic leukocytosis, and high erythrocytic sedimentation rate. Routine biochemical examinations revealed normal levels, except conjugated hyperbilirubinemia and markedly elevated alkaline phosphatase. Serological tests like anti-nuclear antibody, anti-cytoplasmic neutrophilic antibody, HIV-I and -II, and Venereal Disease Research Laboratory test (VDRL) were found to be negative. Chest X-ray posterior-anterior view showed elevation of right dome of diaphragm. Computed tomography (CT) of abdomen revealed a large hypodense space-occupying lesion suggestive of liver abscess at right lobe of liver [Figure 3] and mild pleural collections. CT-guided aspiration of content of abscess was sent for pathological examinations, which showed growth of multiple organisms including Clostridium perfringens, Klebsiella pneumoniae, and Enterococcus faecalis. Orthopantomonograph (OPG) of the patient showed severe alveolar bone loss in relation to the existing permanent teeth up to the level of apical third of roots, giving the teeth a "floating in air" appearance. Immunologic studies revealed low CD3+, CD4+ count. Immunoglobulin profile could not be done due to financial constraints. In this case, genetic testing could not be performed to identify the gene mutation of cathepsin-C because of the low economic status of the parents, but the dermatological, periodontal, and radiological features strongly suggested the diagnosis of PLS. Pyogenic abscess was treated with intravenous ceftriaxone and metronidazole initially, then switched over to sensitive antibiotics after getting culture sensitivity reports. Patient was discharged after 4 weeks of antibiotic therapy with ultrasonography-proved regression of abscess cavity and referred her to a dermatologist and dentist for respective problems. Dermatologist treated her with emollients and salicylic acid; retinoids were not considered as there were some reports which showed treatment with retinoids was associated with increased incidence of liver abscess. Dental experts advised frequent periodontal cleaning, oral hygiene instructions, and antibiotic therapy.
Figure 1: Symmetrical, well-demarcated, hyperkeratotic, and confl uent plaques affecting the skin of t he palms and soles

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Figure 2: Introral examination showing lost central incisors, mandibular lateral incisors, maxillary fi rst premolars, and all permanent fi rst molars

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Figure 3: Computed tomography of abdomen revealed a large hypodense space-occupying lesion suggestive of liver abscess at right lobe of liver and mild pleural collections

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  Discussion Top


PLS, first described by two French physicians Papillon and Lefèvere in 1924, is an extremely rare genodermatosis inherited as an autosomal recessive trait, affecting children between the ages 1 and 4 years. [1] It has a prevalence of 1-4 cases per million persons. PLS is caused by loss-of-function mutations affecting both the alleles of the cathepsin-C gene, located on chromosome 11q14.1-q14.3. [3] The disorder is characterized by diffuse palmo-plantar hyperkeratosis and premature loss of both deciduous and permanent teeth. The palmo-plantar hyperkeratosis typically has its onset between the ages 1 and 4 years. The sharply demarcated hyperkeratotic plaques may occur focally, but usually involve the entire surface of the palms and soles, sometimes extending onto the dorsal surfaces of the hands and feet. [1],[4],[5] Often, there is associated hyperhidrosis of the palms and soles, resulting in a foul-smelling odor. Well-demarcated psoriasiform plaques occur on the elbows and knees. Histopathologic examination of the skin lesions usually shows nonspecific hyperkeratosis, acanthosis, focal parakeratosis, psoriasiform hyperplasia, tortuous capillaries in dermal papillae, and superficial lymphocytic infiltration. The second major manifestation of PLS is severe periodontitis, which starts at age 3 or 4 years. [4],[5] The development and eruption of the deciduous teeth proceed normally, but their eruption is associated with gingival inflammation and subsequent rapid destruction of the periodontium. However, with the eruption of the permanent dentition, the process of gingivitis and periodontitis is usually repeated and there is subsequent premature exfoliation of the permanent teeth, although the third molars are sometimes spared. [5] Nail changes are apparent in advanced cases as in this case, manifested by transverse grooving and fissuring. The skin manifestations of PLS are treated with emollients, with salicylic acid and urea added to enhance the effect. [2],[5] Oral retinoids including acitretin, etretinate, and isotretinoin are the mainstay of treatment of both the keratoderma and the periodontitis associated with PLS. [2] Treatment is more beneficial if it is started during the eruption and maintained during the development, of the permanent teeth. Frequent periodontal cleaning oral hygiene instruction and antibiotic therapy can, at best, only delay the shedding of teeth.

In addition to the skin and oral findings, patients may have immune suppression and an increased susceptibility to bacteria, associated with recurrent pyogenic infections of the skin. [2],[5] Microbiological studies have demonstrated Actinobacillus actinomycetemcomitans, Porphyromonas gingivalis, Fusobacterium nucleatum, and Treponema denticola organisms, suggesting that many pathogens may be involved in the disease process. [2] A decreased chemotactic and phagocytic function of neutrophils has also been suggested. Pyogenic liver abscess is an uncommon presentation of this rare syndrome. Patients with PLS seem to be particularly predisposed to develop pyogenic liver abscess. In our case, patient who presented with recurrent pyogenic liver abscess was first diagnosed by us as a case of PLS. Due to financial constraints, we could not perform genetic testing and immunoglobulin profile, which were limitations in our report. We conclude from this case that every pediatrician and physician should consider PLS as a differential diagnosis, though very rare, of recurrent pyogenic liver abscess and pyogenic infection since childhood, along with palmo-plantar hyperkeratosis and dental problem.

 
  References Top

1.Bergman R, Friedman-Birnbaum R. Papillon-Lefèvre syndrome: A study of the long-term clinical course of recurrent pyogenic infections and the effects of etretinate treatment. Br J Dermatol 1988;119:731-6.  Back to cited text no. 1
[PUBMED]    
2.Dhadke SV, Kulkarni PM, Dhadke VN, Deshpande NS, Wattamwar PR. Papillon Lefevre Syndrome. J Assoc Physicians India 2006;54:246-7.  Back to cited text no. 2
    
3.Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 1999;36:881-7.  Back to cited text no. 3
    
4.Nagaveni NB, Suma R, Shashikiran ND, Subba Reddy VV. Papillon-Lefevre syndrome: Report of two cases in the same family. J Indian Soc Pedod Prev Dent 2008;26:78-81  Back to cited text no. 4
    
5.Janjua SA, Khachemoune A. Papillon-Lefevre syndrome: Case report and review of the literature. Dermatol Online J 2004;10:13.  Back to cited text no. 5
    


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