RESUMEN
Peters plus syndrome is an autosomal recessive rare disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects. Peters plus syndrome is related to mutations in the B3GALTL gene with only seven recently reported mutations, leading to the inactivation of the B1, 3-glucosyltransferase. In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome. A novel homozygous c.597-2A>G mutation was identified in both patients. Bioinformatic analyses showed that this mutation modulates the pre mRNA secondary structure of the gene, and decreases the score value related to the formation of splicing loops. Moreover, the c.597-2A>G mutation is located in a CpG Island of the B3GALTL gene, suggesting a potential epigenetic role of this position including gene's methylation and regulation. These data confirm an important role of the B3GALTL gene test that provides diagnosis confirmation and improves genetic counseling for the families.
Asunto(s)
Galactosiltransferasas/genética , Glucosiltransferasas/genética , Trastornos del Crecimiento/genética , Deformidades Congénitas de las Extremidades/genética , Mutación , ARN Mensajero/química , ARN Mensajero/genética , Anomalías Múltiples/etnología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Secuencia de Bases , Niño , Labio Leporino , Córnea/anomalías , Córnea/patología , Islas de CpG , ADN Recombinante/genética , Trastornos del Crecimiento/etnología , Trastornos del Crecimiento/patología , Humanos , Deformidades Congénitas de las Extremidades/etnología , Deformidades Congénitas de las Extremidades/patología , Masculino , Datos de Secuencia Molecular , Conformación de Ácido Nucleico , Empalme del ARN/genética , Túnez/etnologíaRESUMEN
INTRODUCTION: Lipoid proteinosis (LP), also known as hyalinosis (or lipoidosis) cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is associated with deposits of protein-lipid complexes in various tissues including the skin and mucous membranes. Ophthalmologic manifestations are frequent and can affect visual prognosis. CASE: This 28-year-old patient presented vesiculobullous lesions of the face that developed into varioloid scars associated with hoarseness. Ophthalmologic examination revealed unilateral lesions including hyaline deposits on the palpebral margins, iris, and trabecular zone, complicated by uveitis, cataract, and glaucoma, which caused the functional loss of the left eye. Histological examination of a cutaneous biopsy confirmed the diagnosis. DISCUSSION: Involvement of the eyelids is characteristic, and moniliform blepharosis is pathognomonic and frequent. This case featured a rare intraocular form (uveitis). Deposits may be found on the conjunctiva, cornea, trabecula and Bruch membrane. Conjunctival or cutaneous biopsy confirms the diagnosis. Available treatment is quite limited.
Asunto(s)
Oftalmopatías/etiología , Proteinosis Lipoidea de Urbach y Wiethe/diagnóstico , Adulto , Femenino , Ronquera/etiología , Humanos , Proteinosis Lipoidea de Urbach y Wiethe/complicaciones , Enfermedades Cutáneas Vesiculoampollosas/etiologíaRESUMEN
Xéroderma pigmentosum (XP) is a rare genetic disease characterised by defective repair of DNA damage. We report a retrospective study of the ophtalmologic manifestations of 16 patients with xéroderma pigmentosum, the ophtalmologic manifestations were present in 62% of cases. The age of patients was 7 to 22 years. Photophobia were seen in all patients. Multiple tumors were seen with 5 squamous cell carcinoma. Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age.
Asunto(s)
Oftalmopatías/genética , Xerodermia Pigmentosa/complicaciones , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: The non-Hodgkin's lymphomas are a group of neoplasms characterized by proliferation of malignant lymphocytes. There is a wide variety of presenting signs and symptoms depending on the site of involvement and aggressiveness of the disease. Many organs in the body may be affected. Ocular and orbital localisations are rare, usually discovered in the older people and are exceptional in childhood. CASE REPORT: A 9-year old girl consulted for exophthalmia of the left eye without neither inflammation nor visual function alteration. The magnetic resonance imaging revealed a voluminous orbital tumour, probably a rhabdomyosarcoma. Two biopsies were done on the tumour without conclusion. The biopsy done on a frontal metastasis affirmed the diagnosis of non-Hodgkin's lymphoma. Chemotherapy led to tumour regression and involution of the exophthalmia. The aim of this study is to evaluate the clinical features and treatment of child orbital lymphoma.