Lipoid proteinosis in the eastern Mediterranean region of Turkey.

BACKGROUND: Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis. Hyalin-like material is deposited in multiple organs, including the skin, oral mucosa, larynx, and brain. Only about 300 cases have been reported in the literature so far. Occurrence of LP in siblings is also rare. The reasons for relatively large number of cases, the clinical features of the patients, and the association of LP with other clinical conditions are described in this article. AIMS: The aim of this study is to show that LP is not rare in Turkey and consanguineous marriage is still a social problem. METHODS: We included patients between the years of 2008-2011 with lesions resembling LP. Based on the findings of clinical and histological examination of all cases, a diagnosis of LP was made. RESULTS: We presented six different families with multiple family members suffered from LP. In total, we determined eight children and six adult patients. Three of eight children were from the same family (sisters), the other three children belonged to another family (brothers), two children were from another family (brother and sister), and the adult patients were from three different families. CONCLUSIONS: Patients with LP are likely to present first to a dermatologist because of the appearance of their skin; therefore, it is important that the dermatologic diagnosis is not to be missed. We described patients with LP and discuss the salient features of this disease.

Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinity.

A cross-sectional clinical trial in which the serum anti-phenolic glycolipid (anti-PGL-1) antibodies were analysed in household contacts (HHC) of patients with leprosy as an adjunct early leprosy diagnostic marker was conducted. The families of 83 patients underwent clinical examination and serum anti-PGL1 measurement using enzyme-linked immunosorbent assay. Of 320 HHC, 98 were contacts of lepromatous leprosy (LL), 80 were contacts of borderline lepromatous (BL), 28 were contacts of borderline (BB) leprosy, 54 were contacts of borderline tuberculoid (BT), 40 were contacts of tuberculoid (TT) and 20 were contacts of indeterminate (I) leprosy. Consanguinity with the patients was determined for 232 (72.5%) HHC. Of those 232 contacts, 183 had linear consanguinity. Forty-nine HHC had collateral consanguinity. Fifty-eight contacts (18.1%) tested positive for anti-PGL1 antibodies. The number of seropositive contacts based on the clinical forms of the index case was 17 (29.3%) for LL, 15 (25.9%) for BL, one (1.7%) for BB, 14 (24.1%) for BT, three (5.2%) for TT and eight (13.7%) for I. At the one year follow-up, two (3.4%) of these seropositive contacts had developed BT leprosy. The results of the present study indicate that the serum anti-PGL-1 IgM antibody may be useful for evaluating antigen exposure and as a tool for an early leprosy diagnosis in HHC.

Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinity

A cross-sectional clinical trial in which the serum anti-phenolic glycolipid (anti-PGL-1) antibodies were analysed in household contacts (HHC) of patients with leprosy as an adjunct early leprosy diagnostic marker was conducted. The families of 83 patients underwent clinical examination and serum anti-PGL1 measurement using enzyme-linked immunosorbent assay. Of 320 HHC, 98 were contacts of lepromatous leprosy (LL), 80 were contacts of borderline lepromatous (BL), 28 were contacts of borderline (BB) leprosy, 54 were contacts of borderline tuberculoid (BT), 40 were contacts of tuberculoid (TT) and 20 were contacts of indeterminate (I) leprosy. Consanguinity with the patients was determined for 232 (72.5 percent) HHC. Of those 232 contacts, 183 had linear consanguinity. Forty-nine HHC had collateral consanguinity. Fifty-eight contacts (18.1 percent) tested positive for anti-PGL1 antibodies. The number of seropositive contacts based on the clinical forms of the index case was 17 (29.3 percent) for LL, 15 (25.9 percent) for BL, one (1.7 percent) for BB, 14 (24.1 percent) for BT, three (5.2 percent) for TT and eight (13.7 percent) for I. At the one year follow-up, two (3.4 percent) of these seropositive contacts had developed BT leprosy. The results of the present study indicate that the serum anti-PGL-1 IgM antibody may be useful for evaluating antigen exposure and as a tool for an early leprosy diagnosis in HHC.

Enfermedad de Hansen en pacientes de etnia gitana en el sanatorio de Fontilles: 1909-2009 / No disponible

Objetivo: Describir las características epidemiológicas y clínicas de los pacientes de etnia gitana con Enfermedad de Hansen atendidos y con historia clínica presente en el Sanatorio San Francisco de Borja, Fontilles. Este estudio abarca desde el 17 de enero de 1909 hasta el 17 de enero 2009. Material y métodos: Estudio descriptivo retrospectivo. La población de estudio ha sido identificada tras la revisión del total de historias clínicas presentes en el centro (1711). Se elaboró una base de datos utilizando el programa Excel 2007, los resultados fueron presentados utilizando el programa SPSS versión 14.0. Resultados: 120 pacientes confirmados pertenecientes al colectivo gitano. Prevalencia del 7%. Proporción de sexos 1:1. 70,8% de los pacientes diagnosticados entre los 11 y los 30 años de edad (media de 27 años). 93% multibacilares (MB). 43% refiere síntomas neurológicos como forma de comienzo de la enfermedad. Contactos conocidos en 85% de los casos. Consanguinidad en 77%. Conclusiones: La enfermedad muestra un comportamiento diferente en pacientes de etnia gitana en cuanto a prevalencia, sexo, edad y forma de comienzo de la enfermedad. El estudio de consanguinidad sugiere cierta susceptibilidad innata en pacientes gitanos a padecer la enfermedad (AU)

Objective: To describe epidemiological and clinical characteristics of ethnically Gipsy patients with Hansen´s Disease who were cared for and with present clinical histories in the Sanatorio San Francisco de Borja, Fontilles. This study spans form January 17th, 1909 to January 17th, 2009. Materials and methods: Descriptive retrospective study. The study population was identified after a complete review of all clinical histories found in the health center (1711). A database was created using Excel 2007 software, and results were presented using version 14.0 of SPSS. Results: 120 confirmed patients of Gipsy ethnicity. A prevalence of 7%. Gender ratio of 1:1. 70,80% of diagnosed patients were between the ages of 11 and 30 (with a mean age of 27). 93% multibacillary (MB). 43% presented neurologic symptoms at the onset of the disease. Known contacts in 85% of cases. Consanguinity in 77%. Conclusions: The disease behaves differently in patients of Gipsy ethnicity in regards to prevalence, sex, age, and symptoms at onset. The study of consanguinity suggests a certain innate susceptibility in Gipsy patients to suffer from the disease (AU)

Consanguinity and susceptibility to infectious diseases in humans.

Studies of animal populations suggest that low genetic heterozygosity is an important risk factor for infection by a diverse range of pathogens, but relatively little research has looked to see whether similar patterns exist in humans. We have used microsatellite genome screen data for tuberculosis (TB), hepatitis and leprosy to test the hypothesis that inbreeding depression increases risk of infection. Our results indicate that inbred individuals are more common among our infected cases for TB and hepatitis, but only in populations where consanguineous marriages are common. No effect was found either for leprosy, which is thought to be oligogenic, or for hepatitis in Italy where consanguineous marriages are rare. Our results suggest that consanguinity is an important risk factor in susceptibility to infectious diseases in humans.

Silvery hair with bronze-tan in a child: A case of Elejalde disease.

A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Complete blood count and serum immunoglobulin levels were within normal limits. Peripheral blood smear did not show any cytoplasmic granules in neutrophils. Cerebro-spinal fluid examination did not reveal any abnormality. Light microscopic examination of the hair revealed irregular clumping of the melanin throughout the shafts. The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed.

Congenital erythropoietic porphyria in three siblings.

Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis.

Caracterización epidemiológica de familias con casos secundarios de lepra / Epidemiological characterization of families with secondary cases of leprosy

Se realizó un estudio descriptivo y transversal en familias con casos secundarios de lepra y en contactos de primer orden del área de salud Frank País García de Santiago de Cuba, desde enero del 2004 hasta marzo del 2005, para caracterizar a la población desde un punto de vista epidemiológico. Entre los principales resultados sobresalieron que entre los enfermos y contactos predominaron las féminas y el grupo etario de 15 a 44 años. La detección de la enfermedad en 3 niños reveló transmisión activa del proceso morboso, con fuerte asociación estadística entre casos secundarios con primer grado de consaguinidad y fuentes de infección/antecedentes patológicos familiares de lepra. La quimioprofilaxis no impidió el desarrollo de la enfermedad en el mayor número de los casos secundarios

A descriptive and cross-sectional study was carried out in families with secondary cases of leprosy and in first contacts patients from Frank País García health area in Santiago de Cuba, from January, 2004 to March, 2005, to characterize the population from an epidemiological point of view. Among the main results it was found that among the sick persons and contact patients the female sex and the age group from 15 to 44 years prevailed. The detection of the disease in 3 children revealed active transmission of the morbid process, with marked statistical association between secondary cases with first degree consaguinity and sources of infection/ family medical history of leprosy. Chemoprophylaxis didn't avoid the development of the disease in most of the secondary cases

[Conjugal leprosy]. / Lepra conyugal.

OBJECTIVES: Determining the occurrence of leprosy amongst couples and establishing the type of leprosy in index and secondary cases. METHODS: The characteristics of leprosy were studied between 1980 and 2000 in Atlántico Department located on the Colombian Caribbean Coast. Clinical histories of patients registered in the Leprosy Control Programme were reviewed. Clinical exams were performed and personal interviews carried out with couples suffering from leprosy. RESULTS: Twenty-six married couples were found to be suffering from leprosy, representing 5.4% of leprosy cases detected during the study period. They were aged from 20 to 89. 65.4% of the index cases were men and 22 (84.6%) were multibacillary, lepromatous cases; two had indeterminate leprosy and two were suffering from tuberculoid leprosy. Sixty-one percent of the secondary cases were paucibacillary patients, 42% of them being tuberculoid. No paucibacillary cases were associated with multibacillary leprosy in the couples. Only two couples had consanguinity. None of the couples had had leprosy at the time of being married. The time between leprosy being detected in index cases and the disease being detected in secondary patients varied from 5 to 40 years. Disabilities were more common in the feet and to a higher degree in lepromatous index cases who had had the disease for a longer time than the secondary cases because these were more frequently paucibacillary patients who had a disease having shorter evolution. CONCLUSIONS: In spite of ongoing, prolonged contact, conjugal leprosy is not frequent and requires several years to develop in the second person. Lepromatous leprosy in index cases was more frequently associated with leprosy in the couple. When the primary case was paucibacillary, no multibacillary leprosy occurred in the secondary case.

Lepra Conyugal / Conjugal leprosy

OBJETIVOS: Determinar la ocurrencia de lepra entre cónyuges y precisar las características de la enfermedad en el caso índice y en el secundario. MÉTODOS: Estudiamos sus características en una zona de la Costa Caribe colombiana (Departamento del Atlántico), durante 1980-2000, a través de la revisión de las historias clínicas del Programa Control de Lepra, del examen clínico y de entrevistas con los afectados. RESULTADOS: Encontramos 26 parejas con lepra conyugal, que representan el 5,4 % de los casos diagnosticados durante el periodo, con edades entre 20 y 89 años. El 65,4 % de los casos índices fueron hombres y 22 (84,6 %) lepromatosos; dos tenían lepra indeterminada y dos tuberculoide. Los casos secundarios fueron tuberculoides en su mayoría (42,3 %) y, en conjunto, 61 % paucibacilares. Ningún caso índice paucibacilar se asoció con lepra multibacilar en el cónyuge. Sólo dos parejas tenían consanguinidad. Ninguno de los cónyuges llegó enfermo al matrimonio y su convivencia entre la aparición de la enfermedad en el caso índice y el secundario, varió entre 5 y 40 años. La convivencia de los cónyuges varió entre 5 y 44 años. Las discapacidades se presentaron con mayor frecuencia en los pies y fueron más graves en los casos índices lepromatosos, con enfermedad de larga evolución, que en los secundarios, porque éstos fueron paucibacilares con mayor frecuencia y se detectaron cuando su enfermedad tenía menor tiempo de evolución. CONCLUSIONES: La lepra conyugal es poco frecuente, requiere varios años de convivencia para presentarse en el segundo cónyuge y es más común cuando el caso primario es lepromatoso. Cuando un cónyuge es paucibacilar su pareja no desarrollara lepra multibacilar.

Juvenile hyaline fibromatosis in siblings.

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.

Leituras clínicas e histológicas da reação de Mitsuda em indivíduos sem hanseníase, comunicantes consangüíneos e não consangüíneos de doentes de hanseníase virchowiana em uma comunidade do Estado do Pará, Brasil / Clinical and histological readings of Mitsuda reaction in persons without leprosy consanguineous and non consanguineous of sick people with leprosary virchowiana, in a community of the interior the State of the Pará, Brazil

A reação de Mitsuda foi realizada em cem indivíduos comunicantes consangüíneos e não- consangüíneos de doentes com hanseníase virchowiana, integrantes de unia comunidade isolada, no interior do Estado do Pará. Foram observadas as possíveis diferenças no comportamento clínico e histológico dessa resposta, comparando os sub-grupos entre si e a amostra inteira Com outra composta de indivíduos sem histórico de contato ou consangüinidade com hansenianos. O número de respostas histologicamente negativas foi significativamente maior na amostra de comunicantes de doentes com hansensíase virchowiana e parece haver maior probabilidade de ocorrência de respostas clinicamente positivas com histologia negativa entre esses indivíduos

Reaçao de Mitsuda em contatos consanguíneos e nao consanguíneos de doentes de hanseníase com formas bacilíferas / ?

A reaçao de Mitsuda, ainda que seus macanismos de açao nao estejam inteiramente elucidados, persiste como um bom recurso de avaliaçao da resposta imune do tipo celular frente aos antígenos do M. leprae. Com o intuito de investigar a influência de consaguinidade, entre os doentes de hanseníase e os contatos, na resposta ao bacilo de Hansen, foram analisadas as leituras clínica e histológica da reaçao de Mitsuda. A comparaçao entre ambas as leituras sugere a existência de diferenças no comportamento da resposta ao antígeno de Mitsuda entre contatos consanguíneos e nao consanguíneos de doentes com formas bacilíferas de hanseníase

Lymphocyte transformation test in healthy contacts of patients with leprosy. II. Influence of consanguinity with the patient, sex, and age.

The study was carried out in the Gurage area of Ethiopia, where 53 household contacts of lepromatous patients, 37 household contacts of tuberculoid patients, and 91 control persons were examined with the lymphocyte transformation test (LTT) for their responses to whole and sonicated antigen preparation from M. leprae to BCG, M. avium, M. gordonae and phytohemagglutinin. The potential influence of host factors, namely the state of consanguinity with the leprosy patient, sex and age on the LTT responses was evaluated. In the 35 household contacts of "active," i.e., highly bacilliferous, lepromatous patients, consanguinity with a lepromatous patient was not associated with a significant depression of the LTT responses to M. leprae antigens. Male household contacts of active lepromatous patients showed significantly greater LTT responses to M. leprae antigens than female household contacts. Possible confounding factors for this finding are discussed. Sensitization of M. leprae antigens was present already in a high proportion of the 6 to 14 year old household contacts of active lepromatous patients, which was the youngest age group examined in our study. No significant results were found in any of the other patient contact groups with regard to the host factors examined.