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?

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.

Revisiting primary neural leprosy: Clinical, serological, molecular, and neurophysiological aspects.

BACKGROUND: Leprosy neuropathy is considered the most common peripheral neuropathy of infectious etiology worldwide, representing a public health problem. Clinical diagnosis of primary neural leprosy (PNL) is challenging, since no skin lesions are found and the slit skin smear bacilloscopy is negative. However, there are still controversial concepts regarding the primary-neural versus pure-neural leprosy definition, which will be explored by using multiple clinical-laboratory analyses in this study. METHODOLOGY/PRINCIPAL FINDINGS: Seventy patients diagnosed with primary neural leprosy from 2014 to 2016 underwent clinical, laboratorial and neurophysiological evaluation. All patients presented an asymmetric neural impairment, with nerve thickening in 58.6%. Electroneuromyography showed a pattern of mononeuropathy in 51.4%. Positivity for ELISA anti-PGL1 was 52.9%, while the qPCR of slit skin smear was 78.6%. The qPCR of nerve biopsies was positive in 60.8%. Patients with multiple mononeuropathy patterns showed lower levels of anti-PGL-1 (p = 0.0006), and higher frequency of neural thickening (p = 0.0008) and sensory symptoms (p = 0.01) than those with mononeuropathy. CONCLUSIONS/SIGNIFICANCE: PNL is not a synonym of pure neural leprosy, as this condition may include a generalized immune response and also a skin involvement, documented by molecular findings. Immunological, molecular, and neurophysiological tools must be implemented for diagnosing primary neural leprosy to achieve effective treatment and reduction of its resultant disabilities that still represent a public health problem in several developing nations. Finally, we propose a algorithm and recommendations for the diagnosis of primary neural leprosy based on the combination of the three clinical-laboratorial tools.

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.

Modified simple decompression in the treatment of cubital tunnel syndrome: avoiding ulnar nerve subluxation / Descompressão simples modificada no tratamento da síndrome do túnel cubital: evitando subluxação do nervo ulnar

ABSTRACT 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.

RESUMO Objetivo Neste manuscrito apresentamos uma modificação da técnica de descompressão simples do nervo ulnar no túnel cubital que impede a subluxação do nervo em movimentos de flexão do antebraço. Métodos Foram incluídos cinco pacientes consecutivos acometidos por síndrome do túnel cubital (Hanseníase) submetidos à cirurgia entre 2011 e 2012. Resultados Os sintomas mais comuns foram dor neuropática e alterações sensitivas (60%). No pós-operatório, três pacientes mantiveram o mesmo escore e dois melhoraram dois pontos na escala de McGowan, enquanto na escala Louisiana State University Health Sciences Center, dois pacientes mantiveram o mesmo escore, dois melhoraram dois pontos e um melhorou um ponto. Os corticosteróides foram descontinuados em quatro pacientes. O tempo médio de seguimento foi 25,6 meses (variação 2-48 meses). Não foram observadas recorrência ou subluxação no longo prazo. Conclusões A técnica alternativa apresentou excelentes resultados funcionais e foi bem sucedida na retirada dos corticosteróides. Ademais, subluxações do nervo ulnar não foram observadas.

Terapia con corticosteroides en pacientes de lepra borderline tuberculoide coinfectados con VIH y con reacción de reversión: estudio clínico / No disponible

Antecedentes: El Mycobacterium leprae y el VIH causan enfermedades de tipo infecciosas muy preocupantes para la sanidad mundial. Son especial motivo de preocupación cuando los pacientes se coinfectan con ambos agentes patógenos. El objetivo de este estudio es evaluar los episodios de reacción de reversión (RR) y el efecto del uso de corticosteroides sobre el tratamiento de pacientes de lepra borderline tuberculoide co-infectados con el virus de inmunodeficiencia humana (VIH). Métodos: Este trabajo es un estudio retrospectivo de cohortes en el que se observan las respuestas a la terapia con corticoides y sus manifestaciones clínicas. Se analizan variables durante y después de la multiterapia farmacológica de la Organización Mundial de la Salud (OMS) entre el primer y último día de la toma de prednisona, con un máximo de hasta 6 meses posteriores a haber iniciado la terapia corticosteroidea. Resultados: Se incluye un total de 22 casos VIH-positivos y 28 VIH-negativos. La pérdida de sensibilidad y el engrosamiento neural eran estadísticamente significativos mientras que las lesiones ulceradas sólo se detectaron en el grupo coinfectado. La mayoría de pacientes fueron diagnosticados de lepra en fase de leprorreacción RR y seis pacientes manifestaron RR como un síndrome inflamatorio de restitución inmunológica. De promedio, ambos grupos recibieron dosis similares de corticosteroides (diferencia de 0·1 mg/kg/día). Conclusiones: Las manifestaciones clínicas de ambos grupos fueron similares y la mejoría general fue debida a la administración de corticoides. Registro del ensayo: Este trabajo fue presentado y aprobado por el Ethics Committee on Research of the Oswaldo Cruz Institute el 8 de agosto de 2011 (registro 616/11)

Background: Mycobacterium leprae and HIV cause infectious diseases of great concern for the public health care sector worldwide. Both are especially worrisome diseases when patients become co-infected and exhibit the expected clinical exuberance. The objective of this study was to evaluate episodes of reversal reaction (RR) and the effect of the use of corticosteroids on the treatment of borderline tuberculoid leprosy patients co-infected with the human immunodeficiency virus (HIV). Methods: This is a retrospective cohort study in which the clinical manifestations of the patients and their responses to corticosteroid therapy were observed. Variables were analysed during and after multidrug therapy between the first and last days of prednisone, which occurred up to a maximum of 6 months after initiating corticosteroid therapy. Results: A total of 22 HIV-positive and 28 HIV-negative cases were included. Loss of sensitivity and neural thickening were statistically significant while clinically ulcerated lesions were only observed in the co-infected group. Most patients were diagnosed with leprosy in the presence of RR and six patients manifested RR as an immune reconstitution inflammatory syndrome. On average, both groups received similar doses of corticosteroids (difference of 0·1 mg/kg/day).Conclusions: It is of special interest that the clinical manifestations in both groups were found to be similar and that overall improvement occurred as a result of corticosteroid therapy.Trial registration This work was submitted to and approved by the Ethics Committee on Research of the Oswaldo Cruz Institute on August 8, 2011 (registration 616/11)

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.

Nailfold capillaroscopy in leprosy.

Due to mounting evidences of interaction between Hansen's bacilli with endothelial cells and the paucity of studies addressing the presence of nailfold capillaroscopic alterations in patients with Hansen's disease, a study was carried out in order to verify the presence of capillaroscopic alterations in patients with leprosy in its various forms and its correlation with clinical parameters. Ten patients were evaluated at a specialized university service. Sixty percent of those had some capillaroscopic change, such as micro-hemorrhages, ectatic, bushy and corkscrew capillaries. Such changes were unspecific, which suggests there is not a specific pattern for this disease.

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.

Tuberculous lymphadenitis and borderline leprosy in a patient with isolated unconjugated hyperbilirubinaemia.

A 35-year-old man was diagnosed with tuberculous lymphadenitis and multibacillary borderline tuberculoid leprosy. On investigation, isolated unconjugated hyperbilirubinaemia was detected and evaluation led us to conclude that the probable cause was Gilbert's syndrome. He was successfully managed by administration of chemotherapy for the treatment of both the mycobacterial infections, with no adverse effects on liver function tests.

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.

Mononeuropatía múltiple por lepra: descripción de un caso con presentación atípica / Mononeuritis multiplex due to leprosy: A case of atypical presentation

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