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E-IJD CASE REPORT
Year : 2016  |  Volume : 61  |  Issue : 1  |  Page : 121
Painless ulcers and fissures of toes: Hereditary sensory neuropathy, not leprosy


Department of Dermatology, SVS Medical College, Mahbubnagar, Telangana, India

Date of Web Publication15-Jan-2016

Correspondence Address:
Angoori Gnaneshwar Rao
F12, B8, HIG II APHB Baghlingampally, Hyderabad - 500 044, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.174132

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   Abstract 

Hereditary sensory neuropathies (HSN) are rare genetically determined neuropathies. They often manifest as painless injuries in children. We present HSN in a 5-year-old boy who presented with recurrent fissuring and ulceration involving both great toes.


Keywords: Hereditary sensory neuropathy, nerve conduction studies, painless ulcer


How to cite this article:
Rao AG. Painless ulcers and fissures of toes: Hereditary sensory neuropathy, not leprosy. Indian J Dermatol 2016;61:121

How to cite this URL:
Rao AG. Painless ulcers and fissures of toes: Hereditary sensory neuropathy, not leprosy. Indian J Dermatol [serial online] 2016 [cited 2019 Jun 18];61:121. Available from: http://www.e-ijd.org/text.asp?2016/61/1/121/174132

What was known?
Painless ulceration of hands and feet is the commonest presentation of leprosy. However, it can be presentation of rare inherited disorder like hereditary sensory neuropathy.



   Introduction Top


It is known that 70% of chronic neuropathies in children are hereditary in nature. [1] Hereditary sensory neuropathies (HSNs) are rare disorders characterized by progressive distal sensory loss, predominantly affecting the lower limbs, foot ulcers, skin, bone infections, arthropathy, and amputations with variable degree of motor and autonomic involvement. [2] Dyck classified HSN into five types such as type I, type II, type III, type IV, and type V. [3]


   Case Report Top


A 5-year-old boy born of nonconsanguineous marriage was brought for recurrent fissuring and ulceration involving both great toes of 2-year duration, associated with palmoplantar hyperhydrosis. There was no associated pain or motor weakness and there was no history of preceding trauma. Family history was negative for similar disorder, diabetes mellitus, and leprosy. The boy had a normal birth and normal cognitive development. Examination revealed an ulcer on the dorsum of right great toe extending on to plantar aspect of size 3 cm × 2 cm, covered with healthy granulation tissue and nontender [Figure 1]. The deep fissure was noted at the base of left toe [Figure 2]. A small ulcer was also noted on the dorsal aspect of the right ring finger. There were hyperpigmented, hyperkeratotic plaques on pressure points, that is, knuckles of both hands [Figure 3]. There was no evidence of ainhum or auto amputation involving fingers and toes. Pain and touch sensations were absent on both feet and hands. Vibration and joint sensations were intact. Peripheral nerves were not thickened and not tender. Motor power was normal and equal on both sides. Peripheral pulses were equal on both sides. Hearing and vision was normal. Biceps and triceps jerks were normal but knee and ankle jerk were absent on both sides. No bladder or bowel disturbance. Based on the clinical features, the child was provisionally diagnosed as HSN. However, leprosy was considered in the differential diagnosis and evaluated. On investigation, he was found to have normal blood chemistry, skiagram of feet and magnetic resonance imaging scan of the spine. Nerve conduction study revealed severe diffuse sensory neuropathy. Slit skin smear for acid fast bacilli was negative. Karyotyping showed normal 46XY pattern. However, specific mutations could not be identified due to nonavailability of specific DNA probes. Sural nerve biopsy could not be done as his parents refused. Serology was negative for HIV.
Figure 1: Ulcer on the dorsum of right great toe extending on to plantar aspect

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Figure 2: Deep fissure on the plantar aspect of left great toe

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Figure 3: Hyperkeratotic, hyperpigmented plaques on knuckles of both hands and an ulcer on the dorsum of right ring finger

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   Discussion Top


The main crux of the problem, in this case, is the diagnosis. The type of HSN could not be pin pointed definitely in this case as it has not been completely investigated. The main drawback is the inability to carry out specific genetic tests in the index case which could have clinched the diagnosis. The main differential diagnosis is between HSN types I and II. The findings in favor of type HSN type I are: (i) Sensory deficit involving distal parts of both upper and lower limbs associated with hyperhidrosis and hyperkeratosis (ii) absence of tendon reflexes in lower limbs and presence in upper limbs (iii) uniform slowing of sensory conduction velocity in all peripheral nerves on nerve conduction studies. However, early age of onset and the negative history among the parents do not support the diagnosis of HSN type I. However, the possibility of HSN type I in the absence of positive family can be explained by delayed manifestations of the disease in parents (might manifest later) or the generation of parents might have been skipped. Negative family history and early onset are favorable while the absence of anhydrosis and acral mutilation of fingers does not support the diagnosis of HSN type II. Other types of HSN were differentiated by taking various clinical and investigational parameters into account [Table 1]. Leprosy was differentiated by the absence of nerve thickening, anesthetic patches and negative slit skin smear for acid-fast bacilli in the index case.
Table 1: Differential diagnosis of HSN


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The only way of helping all the patients of HSNs is early detection of disease and proper care of anesthetic feet and advice regarding prevention of repeated trauma and infection. However, recently Garofalo offered ray of hope for the treatment of HSN type I in his pilot study in which he reported that substitution of oral L-serine in place of L-alanine reverses the accumulation of deoxysphingolipids, which are thought to be neurotoxic. [4] As L-serine reduces the severity of neuropathy of HSN type I, it appears to be rational therapy.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Smith SA, Ouvrier R. Peripheral neuropathies in children. In: Swaiman KF, Ashwal S, editors. Pediatric Neurology, Principles and Practice. 3 rd ed. Missouri: Mosby Inc.;  1999. p. 1184.  Back to cited text no. 1
    
2.
Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral Neuropathy. Philadelphia, PA: WB Saunders Co.; 1975. p. 825-67.  Back to cited text no. 2
    
3.
Dyck P, Chance P, Lebo R, Carney J. Heredtary motor and sensory neuropathies. In: Dyck PJ, Griffin JW, Low P, Poduslo JF, editors. Peripheral Neuropathy. 3 rd ed. Philadelphia: W.B. Sanders; 1993. p. 1094-136.  Back to cited text no. 3
    
4.
Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, et al. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest 2011;121:4735-45.  Back to cited text no. 4
    

What is new?
Management of all types of hereditary sensory neuropathy (HSN) is limited to symptomatic treatment and prevention of trauma. However, in HSN type I oral supplementation of L-serine may offer hope of specific medical treatment.


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1]



 

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