ABSTRACT
RESUMO A síndrome de Rothmund (RTS) é uma rara genodermatose, de herança autossômica recessiva. Sua incidência é desconhecida, com aproximadamente 300 casos descritos na literatura. A síndrome é determinada por eritema facial (poiquilodermia), seu marco diagnóstico, além de alterações esqueléticas, alopecia, catarata juvenil e predisposição a osteossarcoma. Neste relato, descrevemos uma paciente com esta síndrome, que foi referida ao serviço de oftalmologia por baixa visão e hiperemia ocular.
ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. This is a report describing a patient diagnosed with RTS referred to us because of low vision and red eyes.
Subject(s)
Humans , Female , Rothmund-Thomson Syndrome/complications , Rothmund-Thomson Syndrome/diagnosis , Rothmund-Thomson Syndrome/pathology , Visual Acuity , Entropion/surgery , Entropion/etiology , Rothmund-Thomson Syndrome/genetics , Corneal Transplantation , Limbus Corneae , Corneal Opacity/diagnosis , Corneal Opacity/etiology , Corneal Opacity/pathology , Genetic Predisposition to Disease , HyperemiaABSTRACT
Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.
Subject(s)
Adolescent , Atrophy/etiology , Humans , Leukoplakia, Oral/etiology , Male , Phimosis/etiology , Photosensitivity Disorders/etiology , Rothmund-Thomson Syndrome/complications , Skin/pathology , Skin Diseases, Genetic/complications , Syndrome , Telangiectasis/etiologyABSTRACT
A case of poikiloderma developed polymyositis ten years after the onset of skin changes. This rare case of poikilodermatomyositis, hitherto not reported from Asian continent, is documented.
Subject(s)
Dermatomyositis/complications , Diagnosis, Differential , Female , Humans , Middle Aged , Polymyositis/diagnosis , Rothmund-Thomson Syndrome/complications , Time FactorsABSTRACT
El síndrome de Rothmund-Thomson es una rara genodermatosis autosómica recesiva, descrita por primera vez en 1868. Se caracteriza por cambios poiquilodérmicos (atrofia, telangiectasias, despigmentación), cataratas juveniles y anormalidades esqueléticas. Presentamos dos pacientes portadores de éste síndrome, justificando ésta publicación en la baja frecuencia de la entidad, destacando las calcificaciones cutáneas como una asociación inusual en uno de los casos
Subject(s)
Humans , Adult , Female , Chromosomes, Human, Pair 8 , Rothmund-Thomson Syndrome/diagnosis , Trisomy , Cataract , Hypogonadism , Osteosarcoma , Photosensitivity Disorders , Rothmund-Thomson Syndrome/complications , Rothmund-Thomson Syndrome/pathology , Rothmund-Thomson Syndrome/drug therapy , TelangiectasisSubject(s)
Humans , Female , Child , Child, Preschool , Cataract/complications , Rothmund-Thomson Syndrome/complicationsABSTRACT
Apresentaçäo de um breve relato de caso de catarata juvenil tardia