Neural fibrolipoma without macrodactyly: a subcutaneous rare benign tumor

Neural fibrolipoma, also known as lipofibromatous hamartoma of nerves and neurolipomatosis, is a rare subcutaneous benign lesion involving the upper extremity with a marked predilection for median nerve. In one-third of the cases, it is associated with macrodactyly (enlargement of one or several digits of hands or feet), diminished sensation, paraesthesias and compression neuropathy. A 23-year-old male presented with a gradually increasing mass in the right palm without associated macrodactyly or neurodeficit. The surgical specimen showed a 20 × 18 × 3 cm, grey yellow fusiform mass. Cut section revealed presence of fibrofatty tissue within and around the enlarged nerve. Microscopy established the relation of nerve enlargement to infiltration of epineurium and perineurium by fibroadipose tissue separating normal nerve fascicles. Limited excision was the mainstay of conservative treatment. Neural fibrolipomas are a rare entity. Knowledge of characteristic histological and radiological findings is necessary for diagnosis and treatment.     

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.     

Multiple neural fibrolipomas with macrodactyly

Neural fibrolipoma is an uncommon tumor-like lesion that involves the upper extremity and usually arises in the median nerve. It is associated with macrodactyly in one-third of the cases. A 3-year-old girl presented with increasing size of fingers of both the hands since birth. Clinical examination revealed macrodactyly of two fingers of the right hand and three fingers of the left. Surgical reduction was performed and microscopy of the biopsy specimen established the diagnosis of neural fibrolipoma. Knowledge of the clinicopathological features is necessary for accurate diagnosis and treatment of this rare entity.     

Tuberous sclerosis with macrodactyly

Tuberous sclerosis with macrodactyly is a very uncommon presentation. We report a 15-year-old girl with a thick, loose hyperpigmented area on the dorsum of the left hand with macrodactyly. A skin biopsy specimen from the dorsum of the left hand revealed dense collagenization in the dermis. Radiographs showed marked irregular thickening of the cortex of the metacarpals and phalanges of the left index and middle fingers.     

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 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.     

A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia

Proteus syndrome is a rare congenital disorder characterized by progressive course and great variability of clinical presentation with partial gigantism of extremities, hemihyperplasia with macrocephaly, epidermal nevus, mesodermal hamartomas and the presence of peculiar cerebriform masses on the palms/soles. Many atypical cases have been reported and this is probably due to the mosaicism of the genetic disorder displaying different clinical features. We describe a patient with an extremely mild form of Proteus syndrome presenting macrodactyly and hyperplasia of one hand which was misdiagnosed until the age of 33 years.     

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

Abstract: A 10-month-old girl had macrodactyly, facial and extremity hemihypertrophy, plantar cerebriform hyperpiasia, a subcutaneous mass on the back, macrocephaly, and lumbar kyphosis. These findings were diagnostic of Proteus syndrome. The clinical features, etiology, management, and points of differential diagnosis are discussed.     

Unilateral generalized hypertrichosis in proteus syndrome

A young lady was found to have hemihypertrophy, scoliosis, subcutaneous swellings, patchy dermal hypoplasia, plantar hyperplasia and macrodactyly. These suggested a diagnosis of Proteus syndrome. She was also having unilateral generalized hypertrichosis. The association of Proteus syndrome and unilateral generalized hypertrichosis has not been reported in the literature.     

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。     

Lipofibromatous Hamartoma of the Median Nerve Associated with Macrodactyly and Port-Wine Stains

Abstract: Lipofibromatous hamartoma of the nerve is a very uncommon congenital tumor. An association between this condition and vascular malformations is not well known. We present an 11 -year-old girl with a lipofibromatous hamartoma of the right median nerve with macrodactyly. She had small red macules on her right neck, chest, and arm, which were diagnosed clinically as port-wine stains. The specimens of the enlarged nerves showed fibrous and fatty growth surrounding the nerve bundles and proliferation of the small veins. We suggest that this disorder can be accompanied by a vascular malformation.     

Proteus syndrome with widespread portwine stain naevus

Proteus syndrome is a rare condition comprising asymmetrical overgrowth of different parts of the body in association with various cutaneous abnormalities. We describe a 3-year-old boy with Proteus syndrome, who presented with hemihypertrophy of the right leg, asymmetric macrodactyly, subcutaneous masses and a widespread portwine stain interspersed with angiokeratomas on the right leg, scrotum and on the middle and left side of the back. Doppler ultrasound of the right leg did not show hypercirculation, but did reveal the absence of the right superficial femoral vein.     

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。     

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called ‘type 2 segmental mosaicism’, but here we propose the short and unambiguous term ‘superimposed mosaicism’. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental ‘diffuse’ lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch. – Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; ‘radial migration lines’ or ‘cerebral white matter migration lines’ as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg. – Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.     

Proteus syndrome complicated by multiple spinal meningiomas

Proteus syndrome is a complex and highly variable disorder comprising malformations and overgrowth of multiple tissues. We present a 65-year-old Japanese man who had multiple spinal meningiomas and accompanying neural symptoms. His right leg showed hypertrophy with cerebriform connective-tissue naevus on the sole, and macrodactyly. Chest computed tomography imaging revealed mild cystic and emphysematous lung changes, which were possibly related to Proteus syndrome. Otherwise, he had no particular cutaneous, musculoskeletal or visceral involvements. Because of the rather insignificant clinical features, he had not been accurately diagnosed in the past and yet had survived to this age. In particular, the presence of spinal meningiomas as an exceptional complication was sufficiently confusing to consider that he had neurofibromatosis. Doctors should be familiar with the diverse clinical pictures of this rare syndrome for its correct diagnosis and proper management.     

Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome.

This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of Proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested Klippel-Trenaunay-Weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing Proteus syndrome from Klippel-Trenaunay-Weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. Proteus syndrome may be genetically different from the Klippel-Trenaunay-Weber syndrome.     

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.