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Archives of Dermatology Aug 1989The term Proteus syndrome was coined in 1983 to describe a disorder of skeletal, hamartomatous, and other mesodermal malformations. The syndrome was named after the... (Review)
Review
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.
Topics: Abnormalities, Multiple; Bone and Bones; Child, Preschool; Diagnosis, Differential; Female; Fingers; Foot; Humans; Skin Abnormalities; Syndrome; Toes
PubMed: 2667470
DOI: No ID Found -
Anais Brasileiros de Dermatologia 2017Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective...
Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations.
Topics: Child, Preschool; Humans; Male; Photography; Proteus Syndrome
PubMed: 29166516
DOI: 10.1590/abd1806-4841.20174496 -
The Journal of Hand Surgery Jan 1992Proteus syndrome is a rare congenital disorder that is characterized by a wide variety of deformities including macrodactyly. Skin and soft tissue lesions are common;... (Review)
Review
Proteus syndrome is a rare congenital disorder that is characterized by a wide variety of deformities including macrodactyly. Skin and soft tissue lesions are common; they may increase in size as the child develops and may assume tremendous proportions. The syndrome is often mistaken for other more commonly recognized conditions such as neurofibromatosis. Unlike neurofibromatosis, the soft tissue masses in Proteus syndrome are not nerve tumors but, rather, are hamartomas composed primarily of lipomatous tissue. The hand surgeon should be aware of this condition when evaluating a child with macrodactyly.
Topics: Diagnosis, Differential; Foot Deformities, Acquired; Hand Deformities, Acquired; Humans; Infant; Male; Proteus Syndrome
PubMed: 1538109
DOI: 10.1016/0363-5023(92)90109-3 -
The Journal of the Association of... May 2016Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central...
Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central nervous system, eyes, skin, soft tissues and vascular system. We report a case of Proteus syndrome in a 22 year male presenting with abnormally enlarged and hypertrophied feet resulting in marked physical constraints.
Topics: Foot Diseases; Humans; Hyperostosis; Leg; Male; Proteus Syndrome; Young Adult
PubMed: 27735155
DOI: No ID Found -
Journal of Postgraduate Medicine 1993A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous... (Review)
Review
A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.
Topics: Aftercare; Humans; Infant; Male; Proteus Syndrome
PubMed: 7996501
DOI: No ID Found -
Cold Spring Harbor Molecular Case... Jun 2020Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively...
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in , a variant that is also present in many cancers. Here we describe an individual with severe Proteus syndrome who died at 7.5 yr of age from combined parenchymal and restrictive pulmonary disease. Remarkably, this individual was found to harbor a mosaic c.49_50delinsAG p.(Glu17Arg) variant in at a variant allele fraction that ranged from <0.01 to 0.46 in fibroblasts established from an overgrown digit. This variant was demonstrated to be constitutively activating by phosphorylation of AKT(S473). These data document allelic heterogeneity for Proteus syndrome. We recommend that individuals with a potential clinical diagnosis of Proteus syndrome who are negative for the p.(Glu17Lys) variant be tested for other variants in .
Topics: Alleles; Allelic Imbalance; Amino Acid Substitution; Cervical Vertebrae; Genetic Association Studies; Genetic Heterogeneity; Genetic Predisposition to Disease; Genetic Testing; Humans; Infant; Magnetic Resonance Imaging; Male; Medical History Taking; Mutation; Phenotype; Proteus Syndrome; Proto-Oncogene Proteins c-akt; Radiography; Symptom Assessment
PubMed: 32327430
DOI: 10.1101/mcs.a005181 -
Clinical Genetics Feb 2014Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i)... (Review)
Review
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis.
Topics: Diagnosis, Differential; Humans; Lipoma; Mutation, Missense; Phenotype; Proteus Syndrome; Proto-Oncogene Proteins c-akt
PubMed: 23992099
DOI: 10.1111/cge.12266 -
Journal of Pediatric Ophthalmology and... 1988Proteus syndrome is a recently recognized hamartoneoplastic malformation syndrome of uncertain etiology and variable expression, whose cardinal manifestations are... (Review)
Review
Proteus syndrome is a recently recognized hamartoneoplastic malformation syndrome of uncertain etiology and variable expression, whose cardinal manifestations are pigmented nevi, hemihypertrophy, macrodactly, lipomata, and cerebroid-gyriform configuration of the skin on the soles of the feet. The characteristic features may be present at birth but become more apparent with time. In the past this syndrome has been confused with other overgrowth disorders such as neurofibromatosis, Klippel-Trenaunay-Weber syndrome, Maffucci syndrome, and Bannayan syndrome. The ophthalmic features of the proteus syndrome require clarification. We review the ocular findings in 16 previously described cases and describe the findings unique to our patient, in particular, unilateral epibulbar and suspected posterior segment hamartomas.
Topics: Child; Eye Diseases; Female; Foot Deformities, Congenital; Gigantism; Hamartoma; Hand Deformities, Congenital; Humans; Nystagmus, Pathologic; Orbital Neoplasms; Skin Diseases; Syndrome
PubMed: 3282059
DOI: 10.3928/0191-3913-19880301-12 -
European Journal of Case Reports in... 2021Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal...
UNLABELLED
Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.
LEARNING POINTS
Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue.The diagnosis can be difficult because the phenotypes are variable.It is important to keep in mind the importance of anticoagulation because patients are at risk of developing deep vein thrombosis and pulmonary embolism.
PubMed: 33987133
DOI: 10.12890/2021_002554 -
Fetal and Pediatric Pathology Oct 2022Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of...
Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. The main histological findings are diffuse patchy overgrowth of skin and subcutaneous tissue, plantar cerebriform connective tissue nevus, and ossification defects. We present a patient that met the clinical and histological criteria necessary for the diagnosis of the disease. He required multiple surgical interventions, including amputation of the right foot. Genetic evaluation confirmed an AKT1 mutation. CLOVES syndrome, neurofibromatosis 1 or PTEN hamartoma tumor syndrome are partially superimposable entities to Proteus syndrome and may generate diagnostic doubt. Although the clinical criteria and histologic findings are indicative, the diagnostic confirmation of this entity is genetic.
Topics: Humans; Lipoma; Male; Musculoskeletal Abnormalities; Nevus; Proteus Syndrome; Skin Neoplasms
PubMed: 34668833
DOI: 10.1080/15513815.2021.1989097