Assuntos
Lúpus Eritematoso Cutâneo/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Lúpus Eritematoso Cutâneo/tratamento farmacológico , Lúpus Eritematoso Cutâneo/prevenção & controle , Esteroides/uso terapêutico , Protetores Solares/administração & dosagem , Síndrome de Sweet/diagnósticoRESUMO
The Moore Federman syndrome (MFS) is characterized by short stature, stiffness of the joints, characteristic facies and ocular abnormalities. Herein, we report the case of a 45 year-old lady with short stature, thickening of the skin, stiffness of the joints, typical facies, iridodonesis and cataract since the age of 12 years. She had short digits and no family history of similar illness. To the best of our knowledge, this could be the fourth report of MFS.
Assuntos
Anormalidades Múltiplas , Deformidades Congênitas da Mão , Dermatopatias , Catarata , Diagnóstico Diferencial , Nanismo , Feminino , Deformidades Congênitas da Mão/diagnóstico , Humanos , Doenças da Íris , Artropatias , Pessoa de Meia-Idade , SíndromeRESUMO
Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.
Assuntos
Hipopigmentação/complicações , Esclerose Tuberosa/complicações , Angiofibroma/complicações , Encéfalo/patologia , Pré-Escolar , Epilepsia/complicações , Neoplasias Faciais/complicações , Humanos , Hipopigmentação/diagnóstico , Deficiência Intelectual/complicações , Imageamento por Ressonância Magnética , Masculino , Esclerose Tuberosa/diagnósticoRESUMO
Chromoblastomycosis (CM), a chronic subcutaneous mycosis, is caused by several dematiaceous fungi, the most common being Fonsecaea pedrosoi. It usually occurs in the lower extremities following traumatic implantation of the organisms. We are reporting a case of chromoblastomycosis on the right lower limb in a sporotrichoid pattern caused by F. pedrosoi. The pattern was probably due to lymphatic spread that seems to be one of the rare presentations. The histopathology showed typical muriform or medlar bodies both intracellularly and extracellularly within the granuloma. Culture revealed sporulating organisms (Cladosporium and Rhinocladiella type) by a combination method, characteristic of F. pedrosoi. Our case responded well to itraconazole.
Assuntos
Ascomicetos , Cromoblastomicose/complicações , Cromoblastomicose/patologia , Perna (Membro) , Linfangite/microbiologia , Adulto , Antifúngicos/uso terapêutico , Ascomicetos/isolamento & purificação , Cromoblastomicose/tratamento farmacológico , Cromoblastomicose/microbiologia , Granuloma/etiologia , Granuloma/patologia , Humanos , Itraconazol/uso terapêutico , MasculinoRESUMO
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestanol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects and premature death from arteriosclerosis. The primary biochemical defect is deficiency of hepatic mitochondrial enzyme sterol-27-hydroxylase which catalyses the hydroxylation of cholestanol (5-alpha dehydro derivative of cholesterol) and this deficiency decreases bile acid synthesis. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentration establishes the diagnosis. Cerebrotendinous xanthomatosis is exceptionally rare in the Indian population. We are reporting a woman with this rare disorder, who was on antiepileptic and antipsychotic drugs for a prolonged period and whose original condition went undiagnosed. She presented with xanthomas on the Achilles tendons and the upper end of tibia. She was mentally subnormal and her serum cholestanol level was raised. Her younger sister too was severely affected by this disorder. Early treatment with chenodeoxycholic acid is known to prevent disease progression.
Assuntos
Xantomatose Cerebrotendinosa/diagnóstico , Adolescente , Adulto , Diagnóstico Precoce , Feminino , Humanos , Masculino , Radiografia , Fatores de Tempo , Xantomatose Cerebrotendinosa/diagnóstico por imagem , Xantomatose Cerebrotendinosa/genéticaRESUMO
Hyper IgE syndrome with recurrent infection (Job's syndrome) is a rare idiopathic primary immunodeficiency disease characterized by the triad of elevated serum IgE (>2000 IU/ml), recurrent cutaneous abscesses and recurrent sinopulmonary infections. The bacteria which commonly infect these patients are Staphylococcus aureus and Haemophilus influenzae. Therapy should include prolonged antibiotic therapy and early surgery. Non-specific agents like levamisole and ascorbic acid may reduce recurrent infections. We are reporting two girls, six and twelve years of age, presented with recurrent cutaneous and respiratory infections and moderately elevated levels of serum IgE.
Assuntos
Imunoglobulina E/sangue , Síndrome de Job/sangue , Criança , Feminino , Humanos , Síndrome de Job/diagnóstico , Recidiva , SíndromeRESUMO
Toxic epidermal necrolysis (TEN) is an acute life-threatening blistering disease characterized by involvement of the skin, multiple mucous membranes and internal organs. It is most commonly precipitated by the administration of medications like anticonvulsants. Neuroleptic malignant syndrome (NMS) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, hyperthermia and autonomic dysfunction. An 18-year-old girl presenting with simultaneous appearance of TEN and NMS following anti-psychotic drugs given for bipolar mood disorder, is reported for the rare association and her complete recovery.
Assuntos
Antipsicóticos/efeitos adversos , Síndrome Maligna Neuroléptica/complicações , Síndrome Maligna Neuroléptica/tratamento farmacológico , Síndrome de Stevens-Johnson/complicações , Adolescente , Antipsicóticos/uso terapêutico , Betametasona/uso terapêutico , Feminino , Seguimentos , Humanos , Índia , Infusões Intravenosas , Síndrome Maligna Neuroléptica/diagnóstico , Medição de Risco , Índice de Gravidade de Doença , Síndrome de Stevens-Johnson/diagnóstico , Síndrome de Stevens-Johnson/tratamento farmacológico , Resultado do TratamentoRESUMO
There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We report a syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, aminoaciduria, primary amenorrhoea and underdeveloped secondary sexual characters in a 38-year-old woman of non consanguinous parentage.
RESUMO
Two cases of Cornelia de Lange syndrome with similar phenotypic features are reported.
RESUMO
A 30-year-old male who presented with indolent leg and foot ulcers, on investigation was found to have Klinefelter's syndrome associated with straight back syndrome.
RESUMO
A 36-year-old woman presented with multiple yellowish cutaneous cysts of 5 years duration, over the scalp, trunk and upper limbs. She had pachyonychia, keratoderma of hands and feet, eyebrows which stood straight out and a single cafe-au-lait macule.
RESUMO
Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent.
RESUMO
A rare hereditary primary lymphoedema (Milroy's disease) affecting three generations of a family involving males only, starting at the age of 15 years is reported.
RESUMO
A 50-year old fisherman presented with multiple polypoid cutaneous and globoid subcutaneous swellings of four years duration. There was history of surgical excision of a nasal polyp in the past. Aspiration cytology and histopathology confirmed the diagnosis of cutaneous and subcutaneous rhinosporidiosis.
RESUMO
Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare hereditary diseases. A young female with Type I HSAN with indeterminate Hansen's disease (HD) is reported which is a rare association.