RESUMO
Phakomatosis pigmentovascularis (PPV) is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.
Assuntos
Adolescente , Humanos , Síndrome de Klippel-Trenaunay-Weber/complicações , Síndrome de Klippel-Trenaunay-Weber/epidemiologia , Masculino , Fenótipo , Transtornos da Pigmentação/complicações , Mancha Vinho do Porto/complicações , Síndrome de Sturge-Weber/epidemiologia , Síndrome de Sturge-Weber/etiologiaRESUMO
Reed's syndrome or familial leiomyomatosis cutis et uteri is an autosomal dominant disorder, characterized by multiple cutaneous and uterine leiomyomas. We report here a case of a 53-year-old woman who presented to us with multiple painful nodules over different parts of her body. Based on the histopathological examination, imaging, and past medical records, a diagnosis of Reed's syndrome was made. Three of her sisters had similar disease. Subsequently, it was found that a total of nine members of their family in two successive generations were affected with cutaneous leiomyomas. The present case series has been reported for its interesting clinical presentations and rarity.
Assuntos
Feminino , Fumarato Hidratase/genética , Predisposição Genética para Doença , Humanos , Leiomiomatose/genética , Leiomiomatose/patologia , Pessoa de Meia-Idade , Linhagem , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologiaRESUMO
A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.
RESUMO
Chronic tophaceous gout classically occurs after 10 years or more of recurrent polyarticular gout. However, tophi can also occur as first sign of the disorder. Here we report a 20-year-old male presenting with multiple subcutaneous nodules on bilateral feet and toes, left palm, right elbow, helix of left ear since last one and half year prior to any other manifestation of gout. He was having mild intermittent arthritis since last six months. Fine Needle Aspiration Cytology of one tophus showed monosodium urate crystals, which are pathognomonic for gout. His serum uric acid was normal and ultrasound revealed bilateral nephrocalcinosis. So far as we know, this is the first case report from India, demonstrating tophi as the initial clinical presentation of gout.