Assuntos
Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Antebraço , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome , Coxa da Perna , TóraxRESUMO
Pyoderma gangrenosum is a necrotizing, ulcerative process commonly associated with inflammatory bowel disease but also occurring in several other systemic illnesses. When associated with myelodysplastic syndromes, its clinical appearance is often atypical. We describe a patient with severe, refractory bullous pyoderma gangrenosum. At autopsy cardiac involvement was demonstrated, a finding not previously reported. Patients with this unusual variant of pyoderma gangrenosum have a grave prognosis.
Assuntos
Pioderma Gangrenoso/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Dermatopatias Vesiculobolhosas/patologiaRESUMO
BACKGROUND: Indeterminate cell proliferations are rarely described in the literature. We present a case of a patient who presented at birth with a solitary lesion that spontaneously regressed. OBSERVATIONS: Five cases of indeterminate cell proliferations have been described in the literature. Their clinical patterns display some common features including adult onset, usually with multiple lesions and a relatively benign clinical course. This patient presented at birth with a single lesion and spontaneous regression, as one would expect with congenital self-healing reticulohistiocytosis. Biopsy confirmed a dermal histiocytic nodule that was predominantly CD1 and S100 positive. Unlike patients with congenital self-healing reticulohistiocytosis, however, electron microscopy failed to demonstrate Birbeck granules. CONCLUSION: Indeterminate cell proliferations are a distinct entity. This presentation expands the range of clinical manifestations reported. It also suggests a close relationship between indeterminate cells and Langerhans cells.
Assuntos
Histiocitoma Fibroso Benigno/congênito , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologia , Histiocitoma Fibroso Benigno/imunologia , Humanos , Imunofenotipagem , Recém-Nascido , Masculino , Neoplasias Cutâneas/imunologiaRESUMO
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia, and mental retardation. An enzymatic defect in fatty alcohol oxidation recently was identified and is thought to be responsible for the disorder. We report two siblings with SLS. In addition to the typical features of the syndrome, the sister had marked hyperkeratosis of the palms and soles, which is rarely seen to this degree. The brother had joint hyperextensibility, which has not been reported previously. Both individuals had documented deficient activity of fatty alcohol:NAD+ oxidoreductase.