RESUMEN
OBJECTIVES: The presence of HLA-DBQ1* 0301 allele in an Egyptian patient with oral pemphigoid and six of his family members was investigated. BACKGROUND: Oral pemphigoid is a variant of vesiculobullous mucous membrane pemphigoid with an immunogenetic predisposition related to defects in major histocompatibility complex (OMIM 604305), HLA-DQB 1 alleles. METHODS: High resolution typing of HLA-DQB 1*0301 allele was carried out for the seven members of an Egyptian family including the child affected with oral pemphigoid. RESULTS: Both parents and three children including the proband were found to be carriers for the studied allele, while the other two children were not. CONCLUSION: Participation of HLA-DBQ1*0301 allele was not informative for both susceptibility and/or phenotypic expression of the disease within the studied family (Fig. 2, Ref. 31).
Asunto(s)
Predisposición Genética a la Enfermedad , Antígenos HLA-DQ/genética , Enfermedades de la Boca/genética , Penfigoide Benigno de la Membrana Mucosa/genética , Adulto , Niño , Femenino , Frecuencia de los Genes , Genotipo , Cadenas beta de HLA-DQ , Humanos , Masculino , Enfermedades de la Boca/patología , Linaje , Penfigoide Benigno de la Membrana Mucosa/patología , FenotipoRESUMEN
Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been described in AGS patients and recent papers have discussed the clinical, molecular and cutaneous histopathological overlap with chilblain lupus. Here we report on 2 unrelated children with AGS and chilblain lesions, whose clinical histories and examination findings well illustrate the wide phenotypic variability that can be seen in this pleiotropic disorder. Although both patients show remarkable similarity in the histopathology of their associated skin lesions, with thrombi formation, fat necrosis and hyalinization of the subcutaneous tissue, we note that the histopathology reported in other AGS cases with chilblains does not necessarily demonstrate this same uniformity. Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease.
Asunto(s)
Enfermedades de los Ganglios Basales/complicaciones , Enfermedades de los Ganglios Basales/diagnóstico , Eritema Pernio/etiología , Oftalmopatías/complicaciones , Lupus Eritematoso Sistémico/complicaciones , Enfermedades de los Ganglios Basales/genética , Calcinosis/genética , Calcinosis/patología , Eritema Pernio/genética , Niño , Consanguinidad , Análisis Mutacional de ADN , Oftalmopatías/etiología , Oftalmopatías/genética , Femenino , Humanos , Lactante , Lupus Eritematoso Sistémico/genética , Masculino , Proteínas de Unión al GTP Monoméricas/genética , Proteína 1 que Contiene Dominios SAM y HD , Convulsiones/complicaciones , Convulsiones/genética , Piel/patología , Tomografía Computarizada por Rayos X/métodosRESUMEN
This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care centers (PHCCs) in Giza Governorate; Neonatal intensive care unit (NICU) in the selected hospitals and Outpatients Human Genetics Clinics (NRC). 62819 persons visited the outpatients clinics of selected hospitals and PHCCs in Giza governorate. Out of these persons 731 cases (1.16%) proved to have known genetic disorders or malformations. 7755 neonates were delivered in the selected hospitals. Out of these neonates 666 newborns entered NICU and 3% (20 neonates) of them had genetic or congenital disorders. Also, 2686 patients were ascertained from the Human Genetics Clinics, NRC. The overall parental consanguinity rate among the 3417 diagnosed cases was 55%, ranging from 29.5-75%. The study showed a high prevalence of genetic/malformation disorders among Egyptians, with frequencies comparable to other Arab populations (Tab. 4, Ref. 25). Full Text (Free, PDF) www.bmj.sk.
Asunto(s)
Anomalías Congénitas/epidemiología , Enfermedades Genéticas Congénitas/epidemiología , Niño , Consanguinidad , Egipto/epidemiología , Humanos , Recién Nacido , PrevalenciaAsunto(s)
Hipertrofia Gingival/genética , Síndrome de Fibromatosis Hialina/genética , Proteínas de la Membrana/genética , Neoplasias Cutáneas/genética , Niño , Preescolar , Predisposición Genética a la Enfermedad , Humanos , Lactante , Mutación , Linaje , Fenotipo , Receptores de Péptidos , Homología de SecuenciaRESUMEN
Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since birth, generalized hypopigmentation, severe primary central nervous system dysfunction, and normal hematological and immunologic profiles. Magnetic resonance of the brain revealed prominent cerebellar atrophy with mild fronto-parietal cortical atrophic changes. Microscopic analysis of his hair showed melanin clumps irregularly distributed along the hair shafts, and a skin biopsy showed increased pigmentation in the basal melanocytes. The differential diagnosis of silvery hair disorders includes Elejalde syndrome, Griscelli and Chediak-Higashi syndromes. In the present report, we review the literature on Elejalde syndrome and discuss the differential diagnosis.
