Proteus syndrome

A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised. This syndrome was first described in 1983. The name Proteus comes from a Greek mythical sea god who was able to change his body form freely. This syndrome has numerous features including hemihypertrophy, macrodactyly, various subcutaneous masses, scoliosis and other minor abnormalities. Although diagnostic criteria have been established for Proteus syndrome, which is very difficult to differentiate from other congenital hamartomatous syndromes, more case reports are needed to define such a rare disorder. Our patient is the 6th Japanese case in the English literature.     

Proteus syndrome

The term Proteus syndrome was coined in 1983 to describe a disorder of skeletal, hamartomatous, and other mesodermal malformations. The syndrome was named after the Greek god Proteus, whose name means "the Polymorphous." Clinical features of this new syndrome are currently being defined. Including the case reported herein, we have found 34 patients with Proteus syndrome described in the English literature. Major clinical findings, defined as those findings seen in more than half of the cases, include hemihypertrophy, macrodactyly, exostoses, epidermal nevi, characteristic cerebriform masses involving the plantar or palmar surfaces, a variety of subcutaneous masses, and scoliosis. Histologic examination of subcutaneous masses has identified a variety of lipomatous, hamartomatous, and angiomatous tumors.     

Proteus syndrome

Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.     

Proteus syndrome

Proteus syndrome is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and hamartomatous tumors. The case of a 42-year-old woman with right hemihypertrophy, macrodactyly of the right hallux, extreme kyphoscoliosis and bilateral plantar connective tissue naevi is reported. Proteus syndrome is reviewed with reference to this patient.     

Proteus syndrome

Proteus syndrome is a rare congenital hamartomatous entity. We report some new findings in a boy with this syndrome, in addition to the classical clinical and radiological features of subcutaneous masses, partial gigantism of hands and feet, bony abnormalities, and epidermal nevi. We also discuss how to reach a definitive diagnosis by using an established rating scale.     

Proteus syndrome

Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.     

Proteus syndrome

A 7‐year‐old girl presented with a history of wine‐colored tumoral lesions on her leg, right foot, abdomen, and back, present since birth. They bled easily on touch or on minimal trauma. Soft, skin‐colored tumors were also present on the pectoral and left axillary regions. All the lesions had increased in size gradually. Also, since birth, she had suffered from progressive enlargement of the feet, in the form of edema. The edema was soft and cold and did not decrease with rest. Over the last 5 years, the feet had been painful while walking. The lesions were pruritic on the legs. She had presented with pain, local heat, erythema, and an odiferous secretion on the periungual margins of both feet over the last year. Her mother reported that the patient presented occasional blood streaks in her stools. The patient was born by cesarean section, due to polyhydramnios. Her psychomotor development and school life were normal, except for a delay in walking (2 years). At the age of 2 years, tumors were excised from the right popliteal and axillary regions. She received blood transfusions six times, because of a persistent anemia. There was no family history of similar tumoral lesions. On physical examination at the first evaluation, she had violet–red maculae, with scattered small papules inside, located on the abdomen, left flank, and right leg ( Fig. 1 ). A 12 × 6 × 4‐cm tumor, which was soft, mobile, and slightly painful on palpation, was located on the right side of the back ( Fig. 2 ). Another verrucous tumor with an irregular surface was located on the distal third portion of the left leg. Papillomatous and exophytic lesions with an irregular surface were found on the left axilla ( Fig. 3 ) and perianal region. There were brown plaques with a rough surface distributed in longitudinal bands from the left hand, through the left arm to the left anterior–posterior side of the trunk, and on the left leg ( Fig. 1 ). A keloid scar was located on the right popliteal region. Multiple skin‐colored papules with a rough surface, were scattered over the thighs. On the fingernails of the left hand, the first four fingers had dystrophic nails, inversion of distal curvature, longitudinal streaks, and grayish pigmentation. On the feet, there was soft, white, cold, and depressible edema, with toes that were hypertrophic and increased in length. The first toes had periungual swollen and painful margins. Diminished muscular trophism prevailed on the arms. She had syndactyly of the second and third toes of the right foot, and third and fourth toes of the left foot ( Fig. 4 ). On the external genitals, there was a wine‐colored exophytic lesion on the labia minor. There was dorsal–lumbar scoliosis and varicose veins on the right leg.

Figure 1 Open in figure viewer PowerPoint Lesions on the legs     

Proteus综合征1例

报告1例Proteus综合征。患者女,30岁。因左拇趾粗大,左下肢偏侧肥大,左足跖脑回养增生性斑块和结节30年就诊。X线检查示左侧第1跖骨头的外侧可见外生骨疣。符合Proteus综合征的诊断。     

变形综合征1例

报告１例变形综合征。患儿为女性，１２岁，具有偏侧肥大、巨指、脊柱侧凸、外生骨疣、线状表皮痣，以及巨头小下颌畸表形、恒牙萌出迟缓、错位咬合和神经纤维瘤。患者还有变形综合征中不常见的动脉导管未闭。     

Vascular anomalies in Proteus syndrome

Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcutaneous tumours and various bone, cutaneous and/or vascular anomalies (VA). VA are manifold in PS, but their prevalence is unknown so far. In order to further characterize PS, we studied the prevalence of VA in 22 PS patients presenting to our outpatient clinic and reviewed 100 PS patients previously reported between 1983 and 2001. The diagnosis of vascular abnormalities was made on clinical grounds and supported with imaging studies and/or histology in 12 and seven patients out of 22, respectively. Thirty-five VA were identified in 22/22 (100%) of our patients, and more than one type of VA were present in 10 of them. Vascular tumours, portwine stains (PWS), and venous anomalies (varicosities, prominent veins) were equally common. A total of 118 VA were previously reported in 70/100 (70%) PS patients; vascular hamartomas were more prevalent (56/118 = 47.5%), whilst PWS (21.2%) and venous anomalies (22.9%) were slightly less common than in our series, but there is the possibility of under-reporting. Unlike Klippel-Trenaunay syndrome, where VA are mostly confined to the hypertrophic limb, major arteriovenous anomalies are rare, and - similar to the other hamartomas and naevi observed in PS (pigmentary naevi, epidermal naevi, subcutaneous tumours, exostoses) - VA appear to be distributed at random sites on the body. We conclude that VA are among the most common findings in PS. Their varying type and distribution lend further support to the concept of somatic mosaicism.     

Proteus syndrome of the hand

Proteus syndrome exhibits an expanded phenotype. We report a case with restricted macrodactyly and cerebriform hypertrophy of one palm. The differential diagnosis with macrodactyly and other hamartomatous overgrowth syndromes is discussed.     

Proteus综合征一例

患者女,16岁因头面部畸形伴右侧躯体疣状增生物16年．于2006年3月2日来本所就诊。患者出生时右耳耳聋．存侧躯体有浅色斑,十燥、粗糙。随年龄增长石侧耳、画、舌、唇增生、月巴大,右侧躯体皮损增厚,颜色变深。一直未就诊：父母及兄弟姐妹体健．家族中无类似疾病患者。     

变形综合征

报告1例变形综合征.患者男,42岁,具有偏侧肥大、巨趾、脊柱侧凸、线状表皮痣、淋巴管瘤等变形综合征的表现.文中对该病进行文献回顾性总结及对最新诊断标准进行讨论.