A rare case of Proteus syndrome

Zingade, ND; Zingade, N N

doi:10.1017/s002221510700151x

Cited by 7 publications

(7 citation statements)

References 4 publications

(6 reference statements)

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“…Patients with Proteus syndrome will often have involve- ment of the hands and feet and veracious epidermal nevi. 7 BWS is a congenital cancer-predisposition syndrome associated with macroglossia, macrosomia, ear pits or ear creases, and midline abdominal wall defects. The associated hemihypertrophy seen in BWS may represent the mosaic form of macrosomia.…”

Section: Hfh Was First Described By Meckel In 1822mentioning

confidence: 99%

Hemifacial Lipomatosis, a Possible Subtype of Partial Hemifacial Hyperplasia: CT and MR Imaging Findings

Bou-Haidar¹,

Taub²,

Som³

2009

AJNR Am J Neuroradiol

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SUMMARY:We present a case of hemifacial hyperplasia in an infant manifesting predominantly as lipomatosis and hemihypertrophy of the maxilla. To our knowledge, there is only 1 other case report in the literature demonstrating the MR imaging features of this condition. Our case was manifest almost exclusively as lipomatosis, largely lacking muscular hypertrophy/hyperplasia. ABBREVIATIONS: BWS ϭ Beckwith-Wiedemann syndrome; HFH ϭ hemifacial hypertrophy; MRA ϭ MR angiography; PHFH ϭ partial hemifacial hypertrophy; THFH ϭ true hemifacial hypertrophy H emifacial hyperplasia is a rare developmental anomaly characterized by asymmetric growth of Ն1 part of the face. In this report of a female child born with facial asymmetry, CT and MR imaging revealed predominantly lipomatosis. The case suggests that hemifacial lipomatosis may be a subtype of partial hemifacial hyperplasia. We discuss the differential diagnosis of HFH and emphasize the importance of screening for embryonal malignancies. Case ReportA 15-month-old female child presented to our department with rightsided facial fullness (Fig 1). The abnormality was noted at birth, and the child's parents stated that the fullness did not fluctuate in size. The right cheek appeared to grow at a rate similar to the left side. Physical examination was also remarkable for a slightly enlarged right auricle. There were no other significant medical problems. No biochemical or chromosomal abnormalities were detected. The child was otherwise healthy. A sonographic examination showed diffuse right facial adipose hypertrophy but no discrete vascular malformation.CT examination at this time demonstrated predominantly increased fatty tissue on the right side of the face. The distribution of fat was largely in the malar region but also infiltrated the ipsilateral muscles of mastication and the parotid gland and extended into the ipsilateral parapharyngeal fat. The right parotid gland and muscles of mastication had a slightly marbled appearance, and there was enlargement of the right prestyloid parapharyngeal space (Fig 2A). These findings were demonstrated again on a follow-up MR imaging examination 4 months later (Fig 2B).The bony structures of the right face showed slight asymmetry, with hypertrophy of the right maxilla and the right lateral pterygoid plate. There was also subtle enlargement of the right zygoma and the right mandible (Fig 3). Regarding dental development, there was slight early rupture of the right maxillary deciduous canine teeth, and enlargement of the premolar and molar teeth was also noted (Fig 4).MR imaging examination performed as a 6-month follow-up revealed stable and similar findings (Fig 5). No abnormal enhancement was identified. No discrete fibrous capsule to suggest an encapsulated lipoma was seen. The tongue appeared symmetric; however, accurate assessment was difficult because the patient was intubated for the study. Findings of an MRA examination were within normal limits, and no intracranial abnormalities were demonstrated. The child was otherwise dev...

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Section: Hfh Was First Described By Meckel In 1822mentioning

confidence: 99%

Hemifacial Lipomatosis, a Possible Subtype of Partial Hemifacial Hyperplasia: CT and MR Imaging Findings

Bou-Haidar¹,

Taub²,

Som³

2009

AJNR Am J Neuroradiol

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“…19 They may occur in the cranium, nasal bones, external auditory meatus, alveolar ridge, maxillary and mandibular bone. 1,5,9,14,[17][18][19] In the presented case, hyperostoses in the alveolar bone, condyle and mandible were observed on the affected side. Multiple skull hyperostoses involving the parietal, occipital, temporal and frontal bone were removed surgically 10 years before.…”

Section: Case Reportmentioning

confidence: 54%

“…8,[10][11][12][13][15][16][17]19 A high arched palate and unilateral enlargement of the tongue on the affected side were found in our patient. Most of the teeth on the left side were extracted owing to periodontal disease.…”

Section: Case Reportmentioning

confidence: 70%

“…9 The diagnosis depends heavily on clinical evaluation and imaging. 7 Diagnostic criteria for PS have been published by Biesecker et al 9 and Turner et al 5 Although several cases about the general clinical and genetic findings of PS have been reported in the literature, few reports have been published describing the dentomaxillofacial manifestations, 8,[10][11][12][13][14][15][16][17] and the radiographic findings of the temporomandibular joint (TMJ) in PS have not been described in detail. Our case report presents the radiographic manifestations of an asymptomatic condyle malformation and also other craniofacial, oral and dental findings in a female patient with known PS.…”

Section: Introductionmentioning

confidence: 99%

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Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome

Yılmaz

Kansu²,

Özgen³

et al. 2013

Dentomaxillofacial Radiology

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Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral examination revealed a high arched palate and gingival hyperplasia. Other findings were unilateral enlargement of the tongue, alveolar growth and dilaceration of the roots of the teeth. There were severe degenerative changes and deformities in the left temporomandibular joint but the oversized condyle was asymptomatic; there was no pain, limitation and deviation at mouth opening. Treatment was not necessary owing to the asymptomatic situation but periodic follow-up with clinical and radiographic examination was considered. The aim of this article is to describe the radiographic manifestations of an asymptomatic condyle malformation and other craniofacial, oral and dental findings in a 33-year-old female patient with known Proteus syndrome.

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“…Proteus syndrome includes craniofacial abnormalities; asymmetrical overgrowth of the trunk, limbs and digits; as well as lipomas and vascular malformations [117]. Testicular lipomatosis has been observed in childhood [118] (Fig. 10.37).…”

Section: Heterotopia Of Adipose Cartilaginous and Bone Tissuesmentioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 10. Ectopic and Heterotopic Tissues in the Testis

et al. 2015

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A rare case of Proteus syndrome

Cited by 7 publications

References 4 publications

Hemifacial Lipomatosis, a Possible Subtype of Partial Hemifacial Hyperplasia: CT and MR Imaging Findings

Hemifacial Lipomatosis, a Possible Subtype of Partial Hemifacial Hyperplasia: CT and MR Imaging Findings

Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome

Perspectives in Pediatric Pathology, Chapter 10. Ectopic and Heterotopic Tissues in the Testis

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