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CASE REPORT
Year : 2016  |  Volume : 36  |  Issue : 1  |  Page : 23-25

Neurofibromatosis with borderline lepromatous Hansen's disease: a rare coexistence


Department of SKIN and VD, Patna Medical College, Patna, Bihar, India

Date of Submission06-Jan-2016
Date of Acceptance27-Jan-2016
Date of Web Publication22-Nov-2016

Correspondence Address:
Pankaj K Tiwary
Kirti Apartments, Shastri Nagar, Patna, Bihar, 800023
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1110-6530.194159

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  Abstract 

Leprosy and neurofibromatosis are two diseases having varied etiology and pathology. Neurofibromatosis has earlier been reported to coexist with lepromatous, histoid, pure neuritic, and borderline tuberculoid leprosy but not with borderline lepromatous leprosy. A 15-year-old boy presented with numerous soft, skin-colored papules and nodules distributed over his entire abdomen and back and also involving his upper limbs, and multiple, pale, and slightly numb patches over his back and both upper arms, which were gradually increasing in size. Biopsy from the hypopigmented lesion over the back revealed a periadnexal and perivascular infiltrate of epithelioid and histiocytic cells with lymphocytes, whereas biopsy from the lesion of neurofibroma over his arm showed a dermal proliferation of wavy spindle cells with a myxoid stroma containing mast cells. Coexistence of these two disorders is usually difficult to diagnose owing to overlapping clinical features. This case has been reported for its diagnostic implications and therapeutic hindrances.

Keywords: Hansen's disease, neurofibromatosis-1, Schwann cells


How to cite this article:
Tiwary PK. Neurofibromatosis with borderline lepromatous Hansen's disease: a rare coexistence. Egypt J Dermatol Venerol 2016;36:23-5

How to cite this URL:
Tiwary PK. Neurofibromatosis with borderline lepromatous Hansen's disease: a rare coexistence. Egypt J Dermatol Venerol [serial online] 2016 [cited 2020 May 31];36:23-5. Available from: http://www.ejdv.eg.net/text.asp?2016/36/1/23/194159


  Introduction Top


Leprosy and neurofibromatosis are two diseases having varied etiology and pathology but with a common target — that is, nerves or better Schwann cells. Leprosy on one hand is a disease of infectious etiology causing destruction of nerves and other organs, whereas neurofibromatosis on the other hand is a genodermatosis characterized by proliferation of Schwann cells leading to nodular thickening of nerve trunks. Neurofibromatosis-1 (NF1) is among the most common inherited nervous system disorders and occurs in one in 3000 individuals with equal sex ratio [1]. Whether hyperproliferated and thickened nerve trunks pose difficulty for the entry of lepra bacilli or whether damaged nerve cells pose an ease for entry is still an issue for discussion. Neurofibromatosis has earlier been reported to coexist with lepromatous [2], histoid [3], pure neuritic [4], and borderline tuberculoid leprosy [5] but not with borderline lepromatous leprosy. We report the case of a young boy suffering from NF1 who presented with manifestations of borderline lepromatous leprosy.


  Case report Top


A 15-year-old boy presented with numerous soft, skin-colored papules and nodules distributed over his entire abdomen and back and also involving his upper limbs [Figure 1]. These lesions developed over a span of 3 years, were asymptomatic, and gradually increased in size. In the last 8–9 months, his parents noticed multiple, pale, and slightly numb patches over his back and both upper arms, which were gradually increasing in size. The patient's physical milestones were normal but he had delayed neurological milestones. He had been studying in class 5 for the last 4 years. There was no history of seizure, deafness, ocular problems, or neurological deficit. There was no family history of similar lesions. All patients gave their formal consent.
Figure 1: Multiple neurofibromas.

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On examining the patient, multiple small to medium-sized neurofibromas were present over the abdomen and upper limbs. Characteristic grouped small neurofibromas were present around the umbilicus. Axillary and inguinal freckling was present, but café-au-lait macules were not marked. Numerous hypopigmented to slightly erythematous plaques were present over the back, abdomen, and both upper arms. Their sizes varied from 2 × 2 cm over the back to 8 × 6 cm over the right shoulder [Figure 2]. These plaques had a dry surface with well-defined to ill-defined margins with diminished touch and pain sensation. Both ulnar nerves were thickened, the right slightly more than the left; the right one had grade I neuritis.
Figure 2: Multiple hypopigmented, anesthetic patches.

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Slit skin smear from ear lobules, eyebrows, and lesions showed the presence of acid fast bacilli in all. The bacteriological index was 3+. Biopsy from the hypopigmented lesion over the back revealed a periadnexal and perivascular infiltrate of epithelioid and histiocytic cells with lymphocytes. The infiltrate appeared to be arranged in a curvilinear pattern and was focally present parallel to the atrophic epidermis [Figure 3]. Fite stain was positive for lepra bacilli (10–100 bacilli/HPF). Biopsy from the lesion of neurofibroma over the arm showed a dermal proliferation of wavy spindle cells with a myxoid stroma containing mast cells [Figure 4].
Figure 3: Periadnexal and perivascular infiltrate of epithelioid and histiocytic cells with lymphocytes.

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Figure 4: Dermal proliferation of wavy spindle cells with a myxoid stroma.

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These findings confirmed the diagnosis of NF1 according to Riccardi's classification [6] (two or more neurofibromas and axillary and inguinal freckling) and borderline lepromatous leprosy. The patient was started on multibacillary treatment for leprosy, and his parents were counseled about the nature of neurofibromatosis.


  Discussion Top


Neurofibromatosis is a genodermatosis disease having neurocutaneous involvement and is of three types. NF1 or von Recklinghausen's disease is characterized by pigmented macules and tumors of the skin and nerves. NF2 presents with bilateral acoustic neuromas and the third type is schwannomatosis. The majority of cases of neurofibromatosis are autosomal dominant, some having sporadic presentation as well. Leprosy or Hansen's disease is a disease caused by acid fast bacilli predominantly affecting the nervous tissue. In neurofibromatosis, there is hyperproliferation of Schwann cells leading to nodular thickening of peripheral nerves. The proneness of these pathological nerves to invasion by Mycobacterium leprae is difficult to ascertain, but coexistence of these two disorders is a point of diagnostic dilemma. One observation has been that the onset of neurofibromatosis precedes the onset of leprosy, both in our case and in previous cases. Grover et al.[5] proposed that neurofibromatosis might predispose Schwann cells to invasion by M. leprae, but the pathogenetic relationship, if any, is far from clear as the association is rare.

Coexistence of these two disorders is usually difficult to diagnose owing to overlapping clinical features. Nodules are a hallmark of both neurofibromatosis and leprosy [7][8]. In an area having less incidence of disease and healthcare professionals having less exposure to the clinical features, lesions of leprosy can be mistaken for neurofibromatosis and appropriate treatment could be delayed. Conversely, in a population having a high prevalence of leprosy, neurofibromatosis has been mistaken for leprosy [9]. Hence, inappropriate treatment may be instituted. Chatterji [10] proposed that demonstration of acid fast bacilli in a biopsy should be conclusive proof of the diagnosis of leprosy as opposed to neurofibromatosis, but this view was challenged by Johansen and McCreary [11]. The presence of M. leprae in neurofibromatosis had also been reported in other studies.

This case is reported for its diagnostic implications and therapeutic hindrances. The possible relationship between these two diseases is an important matter for further exploration.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Norden AD, Reardon DA, Patrick CY WenPrimary central nervous system tumors: pathogenesis and therapy2010Richmond, Tx, USASpringer Science & Business Media  Back to cited text no. 1
    
2.
Swift TRNeurofibromatosis and leprosyJ Neurol Neurosurg Psychiatry197134743749  Back to cited text no. 2
    
3.
Thomas J, Wilson NC, Parimalam S, Augustine SM, Muthuswami TCMultiple neurofibromatosis with histoid leprosyInt J Lepr Other Mycobact Dis198957695696  Back to cited text no. 3
    
4.
Rao MV, Thappa DM, D’Souza M, Ratnakar CNeurofibromatosis with pure neuritic leprosyJ Dermatol199724799800  Back to cited text no. 4
    
5.
Grover C, Lohra M, Nanda S, Reddy BSLeprosy with neurofibromatosis — a diagnostic dilemmaLepr Rev2005769193  Back to cited text no. 5
    
6.
Riccardi VMVon Recklinghausen neurofibromatosisN Engl J Med198130516171627  Back to cited text no. 6
    
7.
Ghosh S, Kundu SKNeurofibroma and leprosyIndian J Dermatol1970157982  Back to cited text no. 7
    
8.
Joseph MSVon Recklinghausen's disease associated with diffuse lepromatous leprosy — a case reportIndian J Lepr198557872875  Back to cited text no. 8
    
9.
Naik RP, Srinivas CR, Rao RVThickening of peripheral nerves in neurofibromatosisIndian J Lepr198557876878  Back to cited text no. 9
    
10.
Chatterji SNDifferential diagnosis between nodules of leprosy and neurofibromasNeur Cutan Rev193538722  Back to cited text no. 10
    
11.
Johansen FA, McCreary FDLeprosy and Von Recklinghansen's diseaseInt J Lepr19364485487  Back to cited text no. 11
    


    Figures

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



 

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