Skin Lesions, Foot Drop, and Hand Contractures.

A previously healthy individual in his 20s had 3 months of annular skin lesions, with numbness and paresthesia in the affected areas. Physical examination revealed multiple tattoos, bilateral palpable thickened auricular and ulnar nerves, and claw-hand deformity; test results for rapid plasma reagin, antinuclear antibodies, rheumatoid factor, acid-fast bacilli, mycobacteria, and fungi were negative, and biopsy did not identify Mycobacterium leprae. What is the diagnosis and what would you do next?

Primary Neuritic Hansen's Disease presenting as Ulnar Nerve Abscess in a Human Immunodeficiency Virus Positive Patient.

Leprosy has been increasingly known to have an enigmatic relationship with human immunodeficiency virus infection. Co-infection may result in atypical manifestations of leprosy. A 45-year old human immunodeficiency virus-positive male; agricultural laborer presented with a swelling over right elbow, right hand deformity, generalized itching and recurrent vesicles overthe perinasal area. Clinical and investigational findings were consistent with mononeuritic type of Hansen's disease with right sided silent ulnar nerve abscess, partial claw hand. CD4+ count of the patientwas 430 cells/cmm. This patient also hadherpes simplex labialis, with HIV-associated pruritus. To the best of our knowledge such an atypical presentation has not been reported earlier.

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

PURPOSE: Coronin-1A deficiency is a recently recognized autosomal recessive primary immunodeficiency caused by mutations in CORO1A (OMIM 605000) that results in T-cell lymphopenia and is classified as T(-)B(+)NK(+)severe combined immunodeficiency (SCID). Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred. METHODS: We captured a 10-year analysis of the immune-clinical phenotypes in two affected siblings from disease debut of age 7 years. Target-specific genetic studies were pursued but unrevealing. Telomere lengths were also assessed. Whole exome sequencing (WES) uncovered the molecular diagnosis and Western blot validated findings. RESULTS: We found the compound heterozygous CORO1A variants: c.248_249delCT (p.P83RfsX10) and a novel mutation c.1077delC (p.Q360RfsX44) (NM_007074.3) in two affected non-consanguineous siblings that manifested as absent CD4CD45RA(+) (naïve) T and memory B cells, low NK cells and abnormally increased double-negative (DN) ϒδ T-cells. Distinguishing characteristics were late clinical debut with an unusual mucocutaneous syndrome of epidermodysplasia verruciformis-human papilloma virus (EV-HPV), molluscum contagiosum and oral-cutaneous herpetic ulcers; the older female sibling also had a disfiguring granulomatous tuberculoid leprosy. Both had bilateral bronchiectasis and the female died of EBV+ lymphomas at age 16 years. The younger surviving male, without malignancy, had reproducibly very short telomere lengths, not before appreciated in CORO1A mutations. CONCLUSION: We reveal the third CORO1A-mutated kindred, with the immune phenotype of abnormal naïve CD4 and DN T-cells and newfound characteristics of a late/hypomorphic-like SCID of an EV-HPV mucocutaneous syndrome with also B and NK defects and shortened telomeres. Our findings contribute to the elucidation of the CORO1A-SCID-CID spectrum.

Extensive ulnar nerve necrosis: a complication of tuberculoid leprosy.

Pure neural leprosy without cutaneous manifestations is a relatively rare manifestation of leprosy. It can present as a mono- or poly-neuritis with sensory and/or motor impairment. Neural leprosy may or may not be associated with thickening of the involved nerve. We report the case of a 14 year old boy with extensive ulnar nerve necrosis who was diagnosed to have tuberculoid leprosy. What makes this case unique is that we have here a case of pure neural leprosy with a single nerve turned 'necrotic'.

Nerve abscess in primary neuritic leprosy.

Nerve abscess is an infrequently reported complication of leprosy. We describe a patient with a pure neuritic type of leprosy with multiple nerve abscesses, who presented with tingling and numbness in the medial aspect of his right forearm and hand. Subsequently he developed pain, redness and swelling over the medial side of his right elbow and the flexor aspect of his right wrist. High-resolution ultrasound showed diffuse thickening of the right ulnar nerve with hypoechoic texture housing a cystic lesion with internal debris suggesting an abscess, at the cubital tunnel. Histopathological examination of the pus and tissue obtained from the abscess revealed presence of granulomas with lepra bacilli. The patient responded to surgery and multidrug therapy. In conclusion, the nerve abscess as the first manifestation of leprosy is uncommon and a high index of suspicion is required to make a correct diagnosis.

Trigeminal trophic syndrome complicating a case of borderline tuberculoid leprosy.

An example of trigeminal trophic syndrome presenting as ulceration of ala nasi in a case of borderline tuberculoid leprosy is reported. To the best of our knowledge, this is only the second case report of this manifestation in leprosy to be documented.

[Diagnosis and treatment of leprous neuropathy in practice]. / Diagnostic et traitement de la neuropathie lépreuse en pratique.

Leprosy still affects 240,000 persons every year in the world. It is a particularly common cause of neuropathy and severe disabilities in developing countries. With increasing migration, new cases of leprosy are regularly diagnosed in developed countries, where it still remains rare and so underestimated. Cutaneo-nevritic leprosy is the most frequent form of leprosy. It may be diagnosed by the clinical features and the cutaneous histology and bacteriology. Neuritic leprosy without obvious skin lesions is reported in 5 to 15% of leprosy patients. It must be suspected in persons from areas of endemic disease presenting with nerve thickening and associated nerve deficit. Nerve biopsy is essential for diagnosis. However search for bacilli in cutaneous samples may be of great help and avoid nerve biopsy. Acute and severe neuritis occurs during reactional states, reversal reaction (Type 1) and erythema nodosum leprosum (Type 2). Multidrug therapy is advocated. The treatment of acute neuropathy needs a supplementary medical and sometimes surgical treatment.

Presence of intestinal helminths decreases T helper type 1 responses in tuberculoid leprosy patients and may increase the risk for multi-bacillary leprosy.

Resistance to intracellular pathogens such as Mycobacterium leprae is dependent upon an effective T helper type 1 (Th1)-type immune response. On the other hand, intestinal helminths are known to subvert the host's immune response towards to either a Th2-type immune response or a regulatory T cell up-regulation, which may affect the host's ability to mount an effective response to mycobacteria. Here, we report a significant association between intestinal helminth infections and lepromatous leprosy [odds ratio (OR), 10.88; confidence interval (CI) 95%: 4.02-29.4; P<0.001]. We also observed that the frequency of intestinal helminths correlated strongly with the mycobacterial index (r=0.982, P<0.01). Corroborating with our hypothesis, intracellular levels of interferon-gamma were decreased significantly in leprosy patients co-infected with intestinal helminths when compared to leprosy patients without worms. Conversely, lepromatous leprosy patients with intestinal worms produced higher levels of both interleukin (IL)-4 and IL-10. Our results suggest that a pre-existing infection by intestinal helminths may facilitate the establishment of M. leprae infection or its progression to more severe forms of leprosy.

Hand atrophy in a leprosy patient--treatment with polymethylmethacrylate.

Leprosy, an infectious disease caused by Mycobacterium leprae, affects mostly the skin and peripheral nerves. The polymethylmethacrylate has been used as bone cement, knee and intraocular implants as a bioexpansor, filling the area where it is applied. We describe the case of a Brazilian male with tuberculoid leprosy who developed muscular wasting between the metacarpals of both hands. Ten years after leprosy treatment, he was submitted to five applications of 10% polymethylmethacrylate. The treatment was successful, improving the appearance of his hands leading to a positive impact on the patient's life.

Colonization by Helicobacter pylori of leprosy patients in Spain: immunomodulation to low molecular weight antigens of H. pylori.

We studied the prevalence of Helicobacter pylori in patients with leprosy and the effects of co-infection on the immune response to Helicobacter antigens in the polar groups of leprosy (lepromatous and tuberculoid). We showed that there is no difference in the prevalence of H. pylori in patients with leprosy as compared to a non-leprosy population. We also demonstrated that the immune response to low molecular weight H. pylori antigens (35, 26 and 19 kDa) differs in patients with lepromatous as compared to those with tuberculoid leprosy. In lepromatous leprosy, we show that there is a higher prevalence of the 35 and 26 kDa antigens, but a lower prevalence of the 19 kDa antigen. These immunological results are consistent with previous histopathological studies illustrating a more severe gastrointestinal inflammation in lepromatous patients; importantly, a response to the 35 kDa antigen is recognized as a marker for the development of ulcerative disease.

Bilateral lagophthalmos in leprosy: is it a rare phenomenon?

Lagophthalmos is one of the well known complications of leprosy due to involvement of the facial nerve. Herein, we report three cases of bilateral lagophthalmos due to leprosy which presented to us within a span of just three months. In all these cases, lagophthalmos was not the presenting complaint and it was detected by the treating doctor during examination. This report is being presented to highlight the importance of cranial nerve examination in all cases of leprosy as at times early changes of lagophthalmos may go unnoticed by the patient.

Coexistence of borderline tuberculoid Hansen's disease with tuberculosis verrucosa cutis in a child--a rare case.

M. leprae is a more prevalent cause of cutaneous infections as compared M. tuberculosis, though both belong to the same family of organisms; their co-existence is a rare entity in children. It has been suggested that cross-immunity exists between tuberculosis and leprosy with reports of BCG vaccine giving some protection against leprosy. In spite of epidemiological, clinical and microbiological evidences; the exact relationship between tuberculosis and leprosy still remains unclear. It is imperative to rule out coexistence of cutaneous tuberculosis and leprosy as therapy with rifampicin in treatment of leprosy can lead to drug resistance in management of tuberculosis and the use of steroid in leprosy can aggravate cutaneous tuberculosis.

Atypical presentation of leprosy in HIV.

Atypical presentations can be expected when leprosy, a mycobacterial disease is associated with HIV. We report a case of a 28 year old male driver with a high risk behavior, who came for evaluation of hypoaesthetic, scaly erythematous plaques over face, trunk, upper extremity; verrucous lesions over elbows and necrotic lesions over the neck and lower extremities since 6 months. No other systemic complaints were present. Nerve examination showed grossly thickened left greater auricular nerve and cord like thickening of bilateral ulnar and lateral popliteal nerves. His investigations revealed anemia, a reactive ELISA for HIV-1 and CD4 of 400 cell/cmm. Ultrasonography of the thickened nerves revealed an abscess in the left ulnar nerve whereas the left greater auricular nerve showed neuritis. Histopathology from an erythematous plaque was suggestive of borderline tuberculoid leprosy in reaction. Final diagnosis was borderline tuberculoid leprosy in type 1 reaction with atypical and varied morphology in an immunocompromised male with neuritis of the left greater auricular nerve, a silent left ulnar nerve abscess with early left ulnar nerve palsy. Our case highlights the atypical morphology of leprosy lesions and the unexpected protective cellular response as suggested by formation of nerve abscess in a HIV positive patient.

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction Method.

Identification of Mycobacterium leprae DNA by polymerase chain reaction (PCR) is a reliable and an affordable method to confirm leprosy. DNA from 87 nerve samples (61 from paraffin blocks and 26 fresh samples) was extracted. Mycobacterium leprae DNA was amplified by PCR from 80/87 (92%) specimens. Patients were seen over a period of 11 years (2007-2019), and leprosy was diagnosed based on clinical and characteristic histopathology findings. The clinical diagnostic possibilities were as follows: leprous neuropathy in 73/80 (91.3%), mononeuritis multiplex of unknown etiology in four (5.0%), vasculitic neuropathy in two (2.5%), and distal symmetric sensory motor neuropathy in one (1.3%). The biopsied nerves were as follows: superficial radial = 34 (42.6%), dorsal cutaneous branch of ulnar = 19 (23.8%), sural = 18 (22.5%), and superficial peroneal = 9 (11.3%), and corresponding neurological deficits were recorded in 77 (96.3%) cases. The histopathological diagnoses in total group were as follows: (borderline tuberculoid (BT) = 52, tuberculoid (TT) = 8, borderline lepromatous (BL) = 8, borderline borderline (BB) = 3, nonspecific inflammation = 3, healed/fibrosed = 4, and axonopathy = 2). Acid fast bacilli (AFB) was demonstrated in 11 (13.7%) samples. For comparison, 31 clinically and histopathologically defined non-leprous disease control nerves (inherited neuropathy = 20, vasculitis = 8, and nutritional neuropathy = 3) subjected to PCR were negative for M. leprae DNA. In most instances, there are multiple thickened peripheral nerves in suspected cases of leprosy, but neurological deficits pertaining to the thickened nerve are not as widespread. The current findings emphasize the importance of selecting the most appropriate nerve for biopsy to obtain a positive PCR result. We infer that clinical, histopathological, and PCR tests complement each other to help achieve a definitive diagnosis of leprosy particularly in pure neuritic leprosy and in leprous neuropathy with negative skin smears/biopsy.

Magnetic resonance imaging of ulnar nerve abscess in leprosy: a case report.

A 14-year-old girl on multidrug treatment for borderline tuberculoid leprosy presented with a swelling in her left arm and soon thereafter developed ulnar claw hand. MRI showed a well-defined ovoid lesion arising from the left ulnar nerve, isointense to muscle on T1W images and hyperintense on T2W and STIR images. On post gadolinium T1W sequence the lesion showed peripheral rim enhancement with central necrosis suggestive of abscess. The ulnar nerve proximal and distal to the lesion was thickened and showed mild contrast enhancement. On aspiration the swelling yielded frank pus which was positive for acid-fast bacilli.

Presentations, Signs of Activity, and Differential Diagnosis of Vitiligo.

Vitiligo has a variety of presentations, including focal, acrofacial, segmental, and generalized forms. Thorough knowledge of these presentations is important to make the correct diagnosis. Signs of activity are important to recognize so that treatment is optimized. Clinical findings of confettilike depigmentation, trichrome and inflammatory vitiligo, and the Koebner phenomenon should alert the clinician that a patient's disease is likely to worsen. These patients may require systemic treatment to stabilize their disease. Many other skin disorders present with hypopigmentation or depigmentation and must be distinguished to determine the right diagnosis, advise the patient on prognosis, and prescribe the correct treatment.

Modified simple decompression in the treatment of cubital tunnel syndrome: avoiding ulnar nerve subluxation.

OBJECTIVE: In this study, we propose a modification to the simple decompression technique that contains the ulnar nerve in the cubital fossa, thus preventing subluxation during forearm flexion movements. METHODS: Five consecutive patients with leprosy-associated cubital tunnel syndrome underwent surgery with the modified technique between July 2011 and October 2012. RESULTS: The most common symptoms were neuropathic pain and sensory changes (both 60%). On the McGowan scale, three patients maintained their preoperative score and two patients improved by two points, while on the Louisiana State University Health Sciences Center scale, two patients maintained the same scores, two improved by two points, and one improved by one point. Four patients were able to discontinue corticosteroid use. The mean follow-up time was 25.6 months (range 2-48 months). There were no recurrences or subluxations in the long-term. CONCLUSION: This alternative technique resulted in excellent functional results, as well as successful withdrawal from corticosteroids. Furthermore, it resulted in no ulnar nerve subluxations.