Renal amyloidosis in leprosy, an infrequent cause of nephrotic syndrome in Europe.

Leprosy is a chronic infectious disease caused by Mycobacterium leprae The main clinical manifestations involve the skin and the peripheral nervous system. Several types of nephropathy have been described in leprosy. One frequent form of renal involvement is amyloidosis, especially in patients with lepromatous leprosy. In these patients, end-stage renal disease is an important contributor to morbidity and mortality. Here, we present the case of a patient with nephrotic syndrome caused by secondary amyloidosis, chronic peripheral neuropathy and a history of leprosy. The patient was correctly treated in her youth, which is the best way to avoid renal pathology, but she developed a nephrotic syndrome years later.

Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.

Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67-1G>T probably led to in-frame skipping of exon 68 (36-basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.

Primary systemic amyloidosis: three different presentations.

Primary systemic amyloidosis is a rare disease. We report three cases of primary systemic amyloidosis, one case with multiple myeloma and two cases without any hematological abnormality. Purpuric lesions were the only presenting symptoms of the patient with multiple myeloma and only on investigation, myeloma was detected. Bone marrow biopsy and serum and urine electrophoresis were normal in remaining two cases. These two patients presented with typical waxy lesions on face. Cutis verticis gyrata was present in one case and carpal tunnel syndrome was seen in other case as an additional diagnostic clue. Macroglossia was present in all three cases. Diagnosis was confirmed in all three cases by biopsy using haematoxylin and eosin staining and Congo red staining. Polarized microscopy was not done because of unavailability.

Mutilating acral ulcers: the spectrum of differential diagnosis.

Prominent acral mutilating ulcers can be present in sensorimotor neuropathies. Although diabetes mellitus is the most common cause of neuropathic ulcers, these skin lesions may manifest in nondiabetic neuropathies. The dermatologic abnormalities may even precede the onset of typical neuropathic symptoms, leading to diagnostic confusion. Therefore, a broad differential diagnosis of neurological and systemic disorders should be considered when evaluating patients who have acral skin ulcerations. We report 3 cases of mutilating ulcers associated with nondiabetic neuropathies. The first case is a woman with multiple ulcerations on her forearm, hands, and toes. Her nerve biopsy revealed neuropathy with multiple congophilic deposits consistent with amyloid neuropathy. The second case is a woman with necrotic painless ulcer on her heel. Nerve biopsy in this patient revealed features suggestive of vasculitic neuropathy. The third case is a man with multiple ulcers on his extremities. A sural nerve biopsy in this patient was consistent with leprous neuropathy.

Estado Hístico-Funcional del Riñón en la Lepra / No disponible

Se realizó un estudio descriptivo transversal para determinar el comportamiento del estado histo-funcional de los pacientes afectados de lepra en la ciudad de Camagüey en el período comprendido entre el 1º de enero de 2002 al 21 de diciembre del 2003. El universo de estudio quedó constituido por un total de 51 pacientes portadores de lepra que se controlan bajo tratamietno médico. E grupo de edad más frecuente se encontraba entre 56 y 65 años (41,1%), la lepra dimorfa fue las más representativa (50,9%) se concluyó que la defunción renal se presentó en 7pacientes (13,7%), con afecgación mayor en la lepra lepromatosa. La alteración del sedimento urinario predominanate fue la hemturia microscópica en los enfermos que tenían mayor tiempo de evolución y el patrón histopatológico ás frecuente la glomerulonefritis proliferativa mesangial (AU)

A descriptive, cross-sectional study was carried out to determine the behavior of the histo-functional state of patintes affected by leprosy in Camagüey city form Januari 1st, 2002 to Decembre 3st, 2003. The sutdy universe was composed of 51 patients carriers of leprosy who were under medical treatment. The most frequent age group was among 56 and 65 years (41,1%), dimorphous leprosy was the representative (50,9%); it was concluded that renal dysfunction presented in 7 patientes (13,7%), with major affectation in lepromatous leprosy. The urinary sediment disorder frequently was microscopic hematuria and the histopatholoic pattern most frequent the mesanginal proliferaive glomerulophritis (AU)

Sarcoma de Kaposi en un paciente con lepra lepromatosa VIH negativo / Kaposi's sarcoma in a VIH negative patient with lepromatous lepra

El sarcoma de Kaposi se considera una neoplasia oportunista y ha sido descrita con frecuencia en pacientes con el síndrome de inmunodeficiencia adquirida. El propósito de la presentación de este caso es recordar que existen otros factores de inmunosupresión como la lepra y el uso crónico de corticoides que favorecen el desarrollo del sarcoma. Se presenta la evolución de un paciente masculino de 53 años de edad, con estudio negativo para la infección por VIH tipos I y II, que padecía lepra lepromatosa nodular on reacción leprosa recidivante, se automedicó por 18 meses prednisona hasta que desarrolló la neoplasia mencinada, con diseminación cutánea y visceral que se complicó con amiloidosis renal

[Indolent arthropathies of the lower limbs]. / Les arthropathies indolentes des membres inférieurs.

The didactic lecture deals with four questions: What is the origin of an isolated indolent arthropathy? diabetes, amylose, leprosis. What diagnosis in an adult familial form? Thevenard's disease when amylosis has been excluded. What are the varieties of congenital indolent arthropathies? An early recessive form of Thevenard's disease and the congenital analgesia. How to deal with a unilateral indolent arthropathy? First of all, look for dysraphism.

Amiloidosis laringea / Laryngeal amyloidosis

Paciente de 48 anos quien ingreso al servicio de otorrinolaringologia del Hospital Clinica San Rafael de Bogota. Consulto por Disfonia progresiva de 2 anos de evolucion, como antecedentes, fumador ocasional durante 20 anos. Al examen fisico se encontro a la nasolaringoscopia masa de aspecto regular, de coloracion amarillo rojizo que ocupaba region supraglotica izquierda, region supraglotica y glotica derecha con disminucion del espacio glotico, no se observan las cuerdas vocales verdaderas y no habia compromiso del esofago. Estudios realizados: Rx de esofago RGE II: normal. Tomografia de laringe: lesion tumoral de la zona glotica la cual se extiende a la zona subglotica e infraglotica con fijacion de ambas cuerdas vocales especialmente la derecha y con compromisos de la comisura anterior. Biopsia: Amiloidosis laringea. Se practicaron todos los estudios por parte de Medicina Interna los cuales fueron negativos para Amiloidosis sistemica.En el trabajo se hace una revision completa de la Amiloidosis laringea. Esta enfermedad es una acumulacion de complejos proteinicos anormales (sustancia amiloidea) bastante rara en el tracto respiratorio superior. La laringe es el sitio masfrecuente y ocupa el 1% de la patologia. La sustancia amiloidea fue descubierta por Birchow en 1853. La clasificacion mas sencilla es: amiloidosis primaria sistematica. Se puede relacionar con mioloma multiple, TBC, artritis reumatoidea sifilis, lepra y a tumores preexistentes en laringe, ademas puede ser hereditaria. La Amiloidosis ataca los organos mesenquimatosos y parenquimatosos.

Nefropatia amilóide e transplante renal

Insuficiência renal crônica secundária à amiloidose renal é rara, acometendo cerca de 0,5% dos urêmicos terminais. Säo muitas as doenças sistêmicas que podem produzir amiloidose renal. No Brasil a hanseníase é causa freqüente. Até há alguns anos tais pacientes eram recusados nos programas de diálise e transplante renal, como, em geral, todos aqueles portadores de doenças sistêmicas. Atualmente näo existem mais tais restriçöes e o sucesso de tais terapêuticas substitutivas tem sido relatado. A evoluçäo do paciente com amiloidose submetido a transplante renal é melhor do que quando mantido em diálise crônica, embora em ambos os casos seja inferior à populaçäo geral. A recidiva da amiloidose no rim transplantado é freqüente, pode ser precoce e ter evoluçäo longa. Näo foi descrita ainda perda do enxerto decorrente de recidiva. Nos pacientes portadores de hanseníase ela pode ocorrer precocemente, mesmo quando a doença esteja quiescente. A colchicina parece ser benéfica na profilaxia da recidiva em pacientes com febre familiar do Mediterrâneo. Nos demais casos seu papel ainda está para ser demonstrado. Complicaçöes infecciosas no paciente transplantado parecem ser mais freqüentes no paciente com amiloidose do que naqueles da populaçäo geral. A amiloidose sistêmica pode ser um risco adicional para o paciente. Em suma, apesar da possibilidade de recidiva, de uma possível maior predisposiçäo a infecçöes e dos riscos adicionais trazidos pela amiloidose sistêmcia, o transplante renal em portadores de amiloidose é uma modalidade terapêutica satisfatória e superior à diálise crônica. Sobrevidas superiores a dez anos têm sido descritas

La amiloidosis secundaria como consecuencia del incumlpimiento terapéutico en un enfermos afecto de lepra lepromatosa

La amiloidosis secundaria se presenta el el 8-10 por ciento de enfermos con lepra lepromatosa. Los órganos mayormente afectados por el depósito de la sustancia amiloide son: hígado, bazo, rinón, etc. El de capital importancia sospechar la presencia de esta enfermedad y realizar tinciones especiales sobre material de biopsia obtenido del órgano presuntamente afecto tales como Rojo-Congo, Meteramina Argéntica, que pongan de manifesto las características propias de esta proteína, así como una oxidación con solución de Romañy que diferencie una amiloidosis secundaria (AA) de una primaria (AL). El presente enfermos es un varón de 70 años de edad efecto de lepra lepromatosa desde los 30 años que incumplía el tratamiento específico desde hacía 18.

Autopsy findings in 35 cases of leprosy in Malaysia.

The findings of autopsies performed on 35 leprosy subjects in the University Hospital, Kuala Lumpur, between January 1981 and December 1985 are presented. This is the first report based on autopsy findings from Malaysia. The patients were elderly subjects with a mean age of 74 years. Sixty-six percent had lepromatous leprosy. None had active skin lesions. The most common cause of death was pyogenic infection, particularly bronchopneumonia. Tuberculosis was noted in 25% of the cases. The other important causes of death included cardiac and renal failure. Renal lesions were evident in 71% of the cases, and the most common pathology was interstitial nephritis. Generalized amyloidosis complicated six (17%) patients.

Amiloidosis sistémica en autopsias: revision de la casuística del Hospital San Juan de Dios de Bogotá, 1954-1984

En cerca de 12.000 autopsias practicadas en el Hospital San Juan de Dios de Bogotá entre 1954 y 1984, hubo 37 casos de amiloidosis sistémica (0.3 por ciento), cinco de la forma primaria o AL y 32 de la secundaria, AA o reactiva. Las enfermedades básicas en las formas secundarias fueron la TBC pulmonar (31 por ciento), la lepra lepromatosa y las bronquiectasias (16 por ciento cada una). La causa de muerte se relacionó principalmente con insuficiencia renal por los depósitos de amiloide