Síndrome de Schnitzler

—The Schnitzler's syndrome is defined by a unique constellation of clinical and biological signs including chronic urticaria, intermittent fever, bone pain, arthralgia or arthritis, and a monoclonal IgM gammopathy.We report a patient with daily bouts of urticariform lesions very resistant to therapy with antihistamines and oral corticosteroids, associated with episodes of fever and bone pain. The patient had leukothrombocytosis, anemia associated to chronic inflammatory processes and an increased erythrocyte sedimentation rate. Serum protein electrophoresis demonstrated a monoclonal IgM component with kappa light chains on immunofixation. Techniques of radiodiagnosis revealed focal bone densification in some vertebrae. The histopatologic study of cutaneous lesions showed features of urticaria without vasculitis.According to these clinical, laboratory and radiological features, the diagnosis of Schnitzler syndrome was established.     

Síndrome de Maffucci

.—The Maffucci's syndrome is mesodermic dysplasia characterized for the coexistence of subcutaneous vascular lesions (fundamentally haemangiomas) and enchondromas. The enchondromas is bony tumours characterized by the cartilage persistence in your metaphysic and epiphysic. This tumour can be cause of the deformity and the reduction of the member due to the expansion of the cartilage inside the bone.The haemangioma are a deep vascular tumours, histological appearance is a spindle-cell haemangioma.On the basis of a 26 year-old woman with multiple vascular lesions (haemangioma) and bony (enchondromas) characteristic of the Maffucci's syndrome, we review the clinical characteristics, histologic, epidemiologic and associated features or the process.     

Síndrome de Gorlin

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance.     

Síndrome EEC

—EEC syndrome is an ectodermal dysplasia with primary involvement of the ectodermal oral and epidermal appendages. It is an autosomal, dominantly inherited condition which has three cardinal signs: ectrodactyly, ectodermal dysplasia, and cleft palate and/or harelip. Skin, hair, teeth, and nails can be affected. In addition to the cardinal symptoms, anomalies in the lacrimal ducts or urogenital anomalies can be part of the syndrome. The differential diagnosis includes other ectodermal dysplasias with cleft palate and with or without harelip such as the Rapp-Hodgkin syndrome and the AEC (ankyloblepharon, ectodermal dysplasia, and cleft palate with or without harelip) syndrome.     

Síndrome malformaciones capilares-malformaciones arteriovenosas: presentación de 2 casos,claves diagnósticas y manejo

Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital.