The Manifold Faces of Proteus Syndrome

Happle, Rudolf

doi:10.1001/archderm.140.8.1001

Cited by 14 publications

(6 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…All cases described so far have been sporadic, and one hypothesis suggests that Proteus syndrome is caused by a dominant lethal gene surviving by somatic mutation, according to the “paradominant trait inheritance theory” 4 . Nevertheless, according to Happle, 5 the connection with the PTEN gene is unlikely, by contrast with more recent reports 6 …”

Section: Discussionmentioning

confidence: 82%

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

et al. 2008

View full text Add to dashboard Cite

A 6‐year‐old girl was referred for clinical evaluation. Her phenotype was characterized by an asymmetric face, dysmorphic skull with frontal‐parietal hyperostosis, hypertelorism, strabismus, long neck, and low‐set antiverted ears (Fig. 1). Her thorax was also dysmorphic with dropped shoulders because of the abnormal orientation of the scapulae and scoliosis. Moreover, the following features were evident: multiple abdominal lipomatous formations, muscle hypotonia and hypotrophia, lower limb heterometria, severe limitation of spinal articulation movements, congenital papular‐nodular nevus over the posterior axillary line, macrodactyly of the third and fourth right fingers, left hand smaller than the right, and thickening of the cutaneous tissues of the plantar surface of the foot with a gyrate and cerebriform aspect (Fig. 2). In addition, simple hypermetropic astigmatism of both eyes, exotropia and hypertrophy of the left eye, and dental caries were found. 1 Cranial and facial asymmetry with fronto‐parietal exostosis on the right side 2 Cerebriform bilateral plantar hyperplasia All routine blood examinations were within normal limits; electromyography disclosed a primary muscle disease. Thyroid ultrasound showed a dyshomogeneous structure with normal dimensions. Abdominal ultrasound showed a normal liver, gall bladder, and spleen; however, the pyelic cavities of the kidney were enlarged. Finally, molecular genetic analysis of the PTEN gene was negative. The clinical and instrumental features and the presence of significant cerebriform plantar hyperplasia allowed us to propose a diagnosis of Proteus syndrome.

show abstract

Section: Discussionmentioning

confidence: 82%

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

et al. 2008

View full text Add to dashboard Cite

show abstract

“…This problem has been addressed by several authors. [216][217][218][219] Within the group of ENSs, Proteus syndrome should be distinguished from KlippeleTrenaunay syndrome, 199 neurofibromaotosis 1,199 hemihyperplasia with lipomatosis, 199 type 2 segmental Cowden disease 201 and, perhaps, CLOVE syndrome (congenital lipomatous overgrowth, vascular malformations, and epidermal nevus; CLOVE syndrome is discussed in part II of this review). 220 Moreover, a typical case of Proteus syndrome was reported as an example of ''epidermal nevus syndrome.''…”

Section: Proteus Syndromementioning

confidence: 99%

The group of epidermal nevus syndromes

Happle

2010

Journal of the American Academy of Dermatology

Self Cite

206

171

View full text Add to dashboard Cite

“…However, asymmetric/dysproportionate development of vessels and muscles are also characteristic features of the syndrome as are visceral findings such as cystiform pulmonary abnormalities (4). Furthermore, both regions of hyperplasia and hypoplasia may be noted in the same individual (28,29) indicating that local overgrowth is a visually noticeable epiphenomenon of fundamental disruptions of cellular differentiation and cell metabolism (30).…”

Section: Discussionmentioning

confidence: 99%

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings

Friedrich

2021

In Vivo

View full text Add to dashboard Cite

Background/Aim: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers, an explanation of the very variable phenotype. The aim of this report is to communicate the diagnosis and management of an unusual case of Proteus Syndrome with special attention to oral and craniofacial findings. Case Report: A 15-year-old patient was referred for surgical treatment of pronounced skull malformations and correction of oral mucosal hyperplasia. Treatment caused significant improvement in facial appearance and oral soft tissue conditions. Conclusion: Surgical measures adapted to the local findings and symptoms can often relieve severe disfigurement of the patient.

show abstract

The Manifold Faces of Proteus Syndrome

Cited by 14 publications

References 14 publications

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

The group of epidermal nevus syndromes

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings

Contact Info

Product

Resources

About