Cases reported "Proteus Syndrome"

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1/106. Elattoproteus syndrome: delineation of an inverse form of proteus syndrome.

    A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken as a clue to postulate the Elattoproteus syndrome, an inverse form of proteus syndrome. The paradoxical coexistence of hyperplastic and hypoplastic lesions may reflect a twin spot phenomenon. The patient would carry at the Proteus locus one allele giving rise to overgrowth of tissues (Pleioproteus allele--from Greek pleion, meaning plus), whereas the other allele would cause deficient growth of tissues (Elattoproteus allele--from Greek elatton, meaning minus). At an early stage of embryogenesis, somatic recombination would give rise to two different populations of cells homozygous for either allele. From a heuristic point of view, one may postulate the existence of the Elattoproteus syndrome, a purely inverse form of proteus syndrome that would develop in the absence of the Pleioproteus allele. ( info)

2/106. proteus syndrome: a possible case associated to precocious puberty.

    We report a boy with possible proteus syndrome and precocious puberty. This appears to be the first report of this association. ( info)

3/106. proteus syndrome: craniofacial and cerebral MRI.

    The proteus syndrome is a rare hamartoneoplastic syndrome that may affect the brain, skull, and extracranial head and neck. We present a case with severe, characteristic findings. brain abnormalities are not common in proteus syndrome; when present, hemimegalencephaly and migrational disorders are typically seen, commonly with an associated seizure disorder. Maxillary and mandibular dysmorphism may occur, including unilateral condylar hyperplasia. Subcutaneous fatty, fibrous, lymphangiomatous masses commonly seen in this syndrome may involve the neck and face, leading to disfigurement and potential airway compromise. ( info)

4/106. proteus syndrome and immunodeficiency.

    A 10 year old boy with proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the proteus syndrome. ( info)

5/106. proteus syndrome: MRI characteristics of plantar cerebriform hyperplasia.

    proteus syndrome is a rare congenital hamartomatous syndrome with a variety of abnormalities. It shares many features with other congenital hamartomatous disorders, but cerebriform hyperplasia of the soles and the palms is known as a quite distinctive characteristic in the dermatologic literature. The purpose of this case report is to demonstrate the MRI features of plantar cerebriform hyperplasia in a 9-year-old boy with known proteus syndrome. ( info)

6/106. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in proteus syndrome.

    Because clinical evidence suggests that proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal. ( info)

7/106. Anaesthesia for proteus syndrome.

    A 4-month-old boy with proteus syndrome underwent a successful operation for a left abdominal mass due to hydroureter and hydronephrosis with left ureterovesical stenosis. The operation lasted 4.5 h under general anaesthesia; there were no anaesthetic complications. There is only one previous report on anaesthesia in a patient with proteus syndrome. ( info)

8/106. Cerebriform plantar hyperplasia: ultrastructural study of two cases.

    In the present work we report the histopathological features of the cerebriform plantar hyperplasia observed in two patients with a mild form of the proteus syndrome. light microscopy revealed increased fibro-adipose tissue and adnexal structures in the dermis. Ultrastructurally, densely packed collagen fibrils variable in diameter and configuration, described as composite fibrils and unraveled fibrils, as well as a few fragmented elastic fibrils presenting an altered ratio between the elastin and the microfibrillar components were the major features observed. We consider that these histopathological findings will contribute to further delineate cerebriform plantar hyperplasia and also to establish clues for the early diagnosis of the proteus syndrome. ( info)

9/106. Sudden death caused by pulmonary thromboembolism in proteus syndrome.

    We report 3 patients with proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). The first patient was a male diagnosed with PS at 12 years who had varicose veins, portal vein thrombosis, right iliac vein occlusion and recurrent PE. At age 25 years, he was admitted to the hospital with a severe headache. Despite therapeutic doses of warfarin, investigations for an acute episode of breathlessness showed PE and he was unable to be resuscitated. The second case was a 9-year-old male with PS who collapsed at home and could not be revived. autopsy revealed that the cause of death was a PE associated with thrombosis of the deep veins (DVT). The third patient was a 17-year-old female undergoing inpatient treatment for sinusitis when she unexpectedly arrested. She could not be revived and a full autopsy revealed a large PE with no identified DVT. We conclude that PE is a serious complication of PS and recommend vigilance concerning the signs and symptoms of thrombosis and PE in individuals with PS, including children. Aggressive evaluation and treatment should be considered urgently in patients with PS and signs or symptoms of DVT. ( info)

10/106. proteus syndrome: clinical and surgical aspects.

    The authors report a new case of proteus syndrome with delayed diagnosis and they discuss the place of surgery in this syndrome. ( info)
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