RESUMO
Phalangeal microgeodic syndrome is a rare but benign disorder that affects the fingers of children. This condition was originally described by Maroteaux in 1970. We present two patients who consulted a pediatrician with swelling of the digits of one or both hands. Both lacked additional clinical or biochemical signs. Radiological examination showed multiple small osteolytic areas with sclerotic lining and periostal reactions in the phalanges of the affected hands. These cases were treated with a conservative approach and spontaneous resolution occurred within weeks to months. As it is a rare disease, the clinical presentation can be misinterpreted as an infectious, inflammatory, or even malignant condition and prompts clinicians to expand the diagnostic process with radiological or nuclear imaging and even biopsy. In these patients, a timely clinical diagnosis by a physician who is aware of the disease prevented further investigations.
Assuntos
Acro-Osteólise/diagnóstico , Falanges dos Dedos da Mão , Pré-Escolar , Falanges dos Dedos da Mão/diagnóstico por imagem , Falanges dos Dedos da Mão/patologia , Humanos , Lactente , Masculino , Radiografia , Remissão Espontânea , Esclerose/diagnóstico , SíndromeRESUMO
A newborn child is described with the fetal hypokinesia sequence as a consequence of a restrictive dermopathy. Remarkable findings in this infant were neonatal teeth and survival till age 4 months. Ultrastructural examination of the skin showed thin epidermis and absence of elastic fibres.
Assuntos
Dermatopatias/patologia , Anormalidades Múltiplas , Humanos , Recém-Nascido , Masculino , Dermatopatias/genéticaRESUMO
A 3-month-old male infant presented with pallor, hepatomegaly (4.5 cm), splenomegaly (1.5 cm), anaemia (Hb 6 g/dl) and thrombocytopenia (16 X 10(9)/l). A liver biopsy was diagnostic for Langerhans cell histiocytosis (histiocytosis X). The patient's lymphocytes, co-cultured with neonatal lymphocytes, were positive for virus-like particles without reverse transcriptase activity. The hepatomegaly diminished after 6 months and a second liver biopsy showed decreased histiocytic infiltration. A second viral blood culture remained negative. After 14 months, the hepatomegaly had disappeared completely and there were no more abnormal haematological or clinical findings.