RESUMO
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations.
Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Lipoma/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico , Nevo/diagnóstico , Malformações Vasculares/diagnóstico , Anormalidades Múltiplas , Tecido Adiposo , Pré-Escolar , Humanos , Lipoma/etiologia , Lipoma/genética , Masculino , Anormalidades Musculoesqueléticas/genética , Nevo/etiologia , Nevo/genética , Fenótipo , Escoliose/etiologia , Malformações Vasculares/etiologia , Malformações Vasculares/genéticaRESUMO
We report three cases of pilomatricomas associated with Kabuki syndrome (KS), supporting the hypothesis proposed of an association between pilomatricomas and KS and suggesting a noncoincidental association, because the Wnt pathway mutations involved could affect both morphogenesis and tumorigenesis in these patients.
Assuntos
Face/anormalidades , Doenças do Cabelo/complicações , Doenças Hematológicas/complicações , Pilomatrixoma/complicações , Neoplasias Cutâneas/complicações , Doenças Vestibulares/complicações , Anormalidades Múltiplas , Criança , Pré-Escolar , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Mutação , Proteínas de Neoplasias/genéticaRESUMO
BACKGROUND AND OBJECTIVE: Pruritus is a frequent occurrence in dermatology, and investigation is often unrevealing. The authors report the case of a 65-year-old man presenting with generalized recalcitrant pruritus as the presenting manifestation of hypereosinophilic syndrome. METHODS AND RESULTS: A 65-year-old man developed intractable pruritus. Results of polymerase chain reaction clonal rearrangement were positive and led to the diagnosis and treatment. The patient also developed massive pulmonary embolism, which can be caused by chronic eosinophilia. CONCLUSIONS: This case highlights the importance of investigating patients with pruritus and unexplained persistent eosinophilia. Hypereosinophilic syndrome must be included in the differential diagnosis, which in this case presented initially as intractable pruritus. Polymerase chain reaction clonal rearrangement was key in reinforcing the diagnosis.
Assuntos
Síndrome Hipereosinofílica/complicações , Síndrome Hipereosinofílica/diagnóstico , Prurido/etiologia , Idoso , Doença Crônica , Humanos , Síndrome Hipereosinofílica/terapia , Masculino , RecidivaRESUMO
Necrobiotic xanthogranuloma is a rare non-Langerhans cell histiocytosis with a known association with monoclonal gammopathies and malignant conditions. There is a lack of consensus regarding the management of necrobiotic xanthogranuloma. In this case report, the patient is diagnosed with a long-standing necrobiotic xanthogranuloma limited to the skin. Although all initial investigations were reassuring, the patient remains at a higher risk of developing a malignant condition. The goal of the authors is to highlight the need for clearer investigation and follow-up guidelines.