Proteus Syndrome: New Findings in Seven Patients

Barona-Mazuera, M del Rosario; Hidalgo-Galván, L R; Orozco-Covarrubias, María de la Luz; Durán‐McKinster, Carola; Tamayo‐Sánchez, Lourdes; Ruíz-Maldonado, Ramón

doi:10.1111/j.1525-1470.1997.tb00417.x

Cited by 24 publications

(18 citation statements)

References 17 publications

(30 reference statements)

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“…These authors divided the clinical findings into “major” or “associated”, based on their presence in at least one‐half of patients. Seven new cases were reported in 1997 by Mexican authors 9 …”

Section: Discussionmentioning

confidence: 94%

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

et al. 2008

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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.

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Section: Discussionmentioning

confidence: 94%

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

et al. 2008

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“…1,5 The systematized epidermal verrucous nevus follows the lines of Blaschko which, in turn, could be due to mosaicism. His name has been given to a congenital hamartomatous syndrome, characterized by multifocal overgrowths, which can affect certain tissue and corporal structures.…”

Section: Discussionmentioning

confidence: 99%

“…His name has been given to a congenital hamartomatous syndrome, characterized by multifocal overgrowths, which can affect certain tissue and corporal structures. 2,5 Tumors with a mesodermal nature include lipomas, lymphangiomas, hemangiomas, and ®bromas. There is no evidence of an inheritance pattern.…”

Section: Discussionmentioning

confidence: 99%

“…There is no evidence of an inheritance pattern. 5 The management is multidisciplinary, including palliative surgical treatment of the lesions, periodic medical monitoring, and psychologic support. 2±4 Clinical ®ndings considered to be diagnostic include: macrodactyly and/or hemihypertrophy, palmar and plantar hyperplasia, lipomas and subcutaneous tumors, verrucous epidermal nevus, macrocephaly, and exostosis.…”

Section: Discussionmentioning

confidence: 99%

“…The most common localization is the plantar skin, where pressure-bearing areas, 2 such as the ventral aspect of the toes and the ball of the foot, are most often involved; 1 some patients also have lesions on the interdigital surfaces, as seen in this patient. 5 PK is normally asymptomatic, although cases with severe tenderness have been published after prolonged wearing of boots by military personnel. 4 Prolonged occlusion with shoes, associated with hyperhidrosis or not, is a triggering factor.…”

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Ultrastructure of pitted keratolysis

et al. 2000

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A 20‐year‐old man presented with pitted keratolysis (PK), demonstrating the typical crateriform pits on the hallux ( Fig. 1), ball of the foot, and on the interdigital surface. The involved keratin specimen was obtained by a shaving technique and processed for transmission (TEM) and scanning (SEM) electron microscopy. The patient, who wore only sports shoes, had hyperhidrosis plantaris. He was treated with topical erythromycin with good results. Bacterial cultures from the lesions showed Corynebacterium sp. 1 Crateriform pits on the hallux TEM demonstrated filamentous coccoid bacteria in the keratin ( Fig. 2), showing transversal septations. Tunnel‐like spaces were built inside the horny layer, where the bacteria showed a hairy surface ( Fig. 3). 2 Bacteria inside the stratum corneum (TEM, × 25,000) 3 Hairy surface from the causative agent (TEM, × 106,000) Crateriform pits ( Fig. 4) and small incipient lesions ( Fig. 5) were easily identified on the plantar surface by SEM. On examination of the floor of these lesions, tunnel openings were found ( Fig. 6) in which bacteria could be observed. With higher magnification, the transversal septation, seen by TEM, was also shown with SEM ( Fig. 7). The normal appearing plantar skin was also examined, showing incipient bacterial colonies with tunnels without keratin loss ( Fig. 8). 4 Pitted keratolysis with two incipient lesions on the right side (SEM, × 77.5) 5 Higher magnification of the incipient lesion from the right upper corner of Fig. 4 (SEM, × 310) 6 Tunnel openings in the floor of the pits (SEM, × 15,500) 7 Details of the bacteria; note the transversal septation (SEM, × 31,000) 8 The causative agent in tunnels in normal appearing skin (SEM, × 4650)

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Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

Turner

Cohen

Biesecker

2004

American J of Med Genetics Pt A

214

199

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The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published in the medical literature. The utility of published cases is wholly dependent upon accurate diagnosis of those patients. In our experience, the rate of misdiagnosis in Proteus syndrome (PS) is high. Diagnostic criteria have been published, but these criteria have not been applied consistently and were published after many case reports appeared in the literature. We reviewed 205 cases of individuals reported to have PS in the literature and three of us independently applied the diagnostic criteria to these case reports. Our initial diagnostic congruence was 97.1% (199/205); the discrepancies in six cases were easily resolved. Only 97 (47.3%) of reported cases met the diagnostic criteria for PS; 80 cases (39%) clearly did not meet the criteria; and although 28 cases (13.7%) had features suggestive of PS, there were insufficient clinical data to make a diagnosis. Reported cases that met the PS criteria had a higher incidence of premature death, and other complications (scoliosis, megaspondyly, central nervous system abnormalities, tumors, otolaryngologic complications, pulmonary cystic malformations, dental and ophthalmogic complications) compared to those in the non-Proteus group. The cases that met the criteria were more often male, which has implications for hypotheses regarding the etiology and pathophysiology of PS. We also studied the attributes that led authors to conclude the reported patients had PS when we concluded they did not. We found that two of the diagnostic criteria (disproportionate overgrowth and connective tissue nevi) were often misinterpreted. In PS, the abnormal growth is asymmetric, distorting, relentless, and occurred at a faster rate compared to the rest of the body. Furthermore, PS was associated with irregular and disorganized bone, including hyperostoses, hyperproliferation of osteoid with variable calcification, calcified connective tissue, and elongation of long bones with abnormal thinning. In contrast, non-Proteus cases displayed overgrowth that was asymmetric but grew at a rate similar to the growth found in unaffected areas of the body. Also, the overgrowth in non-Proteus cases was associated with normal or enlarged bones together with ballooning of the overlying soft tissues. Taken together, these data show that (1) PS diagnostic criteria sort individuals with asymmetric overgrowth into distinct groups; (2) individuals with PS were more likely to have serious complications; (3) PS affects more males than females; and 4) the published diagnostic criteria are useful for clinical care and research. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

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Proteus Syndrome: New Findings in Seven Patients

Cited by 24 publications

References 17 publications

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Ultrastructure of pitted keratolysis

Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

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