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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The new term Becker nevus syndrome is proposed for a phenotype characterized by the presence of a particular type of organoid epithelial nevus showing hyperpigmentation, increased hairiness and hamartomatous augmentation of smooth muscle fibers, and other developmental defects such as ipsilateral hypoplasia of breast and skeletal anomalies including scoliosis, spina bifida occulta, or ipsilateral hypoplasia of a limb. The present review includes 23 cases that can be categorized under this designation. The Becker nevus syndrome usually occurs sporadically. The associated anomalies tend to show a definite regional correspondence, suggesting a common origin from an early postzygotic mutation.
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PMID:Becker nevus syndrome. 955

A 15 year-old girl presented with numerous congenital melanocytic nevi, occasionally hairy, with a segmental distribution at the left pre-auricular region. On the left side of the back of the neck there were multiple melanocytic nevi with a warty appearance, which had started to appear when she was 5 and which had remained stable from the time she was 10. These lesions had a distribution reminiscent of an epidermal nevus with a pattern similar to Blaschko's lines. On general physical examination there was a moderate degree of idiopathic scoliosis, with a left lumbar curvature. Biopsies were taken from both types of nevus which were diagnosed as congenital compound melanocytic nevus and acquired compound melanocytic nevus respectively. We consider that the segmental distribution of the melanocytic nevi of this patient supports the theory that a genetic defect determined the appearance of both these congenital and acquired lesions.
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PMID:Segmental arrangement of multiple, partly congenital and partly acquired melanocytic nevi. 964 18

Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. Hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. Hypertension in an individual with epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.
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PMID:Renal artery stenosis associated with epidermal nevus syndrome. 1064 10

Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in Japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising persistent aberrant Mongolian spot-like pigmentary patches, leg-length discrepancy, pelvic obliquity, scoliosis and bilateral melanosis oculi bulbi. Further investigation also revealed agenesis of the right kidney. The cutaneous lesions remained unchanged over a 3-year follow-up period. Within the classification of PPV, this boy's disorder represents an example of PPV IIb. Right kidney agenesis, which has never been observed in PPV, may be an incidental finding.
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PMID:Phakomatosis pigmentovascularis IIb with renal anomaly. 1067 74

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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PMID:Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. 1537 14

Phacomatosis pigmentovascularis (PPV) is a group of syndromes comprising coexistent vascular and pigmentary nevi, which is first classified into five subtypes and then further categorized according to the absence or presence of associated systemic findings as type (a) and (b), respectively. This case report is of an 11-year-old Turkish girl with extensive vascular nevus and nevus spilus. Because of coexistent scoliosis, the patient represents an example of PPV type IIIb. Including the present case, a total of eight cases of PPV type IIIb have been reported to date. The case is discussed in view of the new classification proposed by Happle.
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PMID:Phacomatosis pigmentovascularis type IIIb. 1782 2

Becker nevus is a hyperpigmented hamartoma with an irregular outline and often hairy. It is normally found on the shoulders and chest, although it can appear in other areas. Becker nevus is sometimes associated with other muscular, skeletal, or cutaneous abnormalities such as ipsilateral breast hypoplasia or scoliosis. This characteristic phenotype of Becker nevus associated with unilateral breast hypoplasia or other abnormalities is referred to as Becker nevus syndrome. Although the lesions usually become apparent during adolescence, they are present from birth and represent part of the spectrum of so-called epidermal nevus syndromes. We present 4 cases of Becker nevus syndrome in which Becker nevus was associated with ipsilateral breast hypoplasia and, less consistently, other abnormalities.
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PMID:[Becker nevus syndrome]. 1796 53

We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized phenotype comprises progressive, complex, and mixed truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged bony structures without progressive bony overgrowth. We have named this condition congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) on a heuristic basis. In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome.
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PMID:Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 1796 21

Overgrowth syndromes with complex vascular anomalies pose a challenge for diagnosis and management. The purpose of this descriptive study is to present a cohort of patients with congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome, a distinct clinical phenotype characterized by a complex truncal-lipomatous mass, vascular, acral, and other anomalies. This cohort was ascertained following review of patient data entered into the Vascular Anomalies Center database of the Children's Hospital, Boston over a period of 7 years. Clinical data, imaging findings, and the photographic archive were reviewed. The search identified 18 unrelated patients with a distinct phenotype. Variable portions of the truncal masses observed in these patients were composed of a lymphatic malformation. Capillary malformations and high-flow lesions were commonly encountered. The lipomatous mass infiltrated the adjacent anatomic spaces and was associated with capillary, lymphatic, venous, and arteriovenous vascular malformations. Paraspinal-intraspinal extension was associated with morbid sequelae. Acral deformities included large, wide feet and hands, macrodactyly, and a wide sandal gap. Scoliosis and other musculoskeletal, neurologic, renal, and cutaneous malformations were also encountered. The uniform and highly characteristic features of the truncal lipomatous mass, in combination with vascular, acral, and other anomalies, provide evidence of a distinct nosologic and clinical entity. Morbid sequelae of the truncal involvement in this condition can be deforming and disabling; hence, prompt diagnosis and multidisciplinary care are necessary.
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PMID:Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. 1901 70

Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on his trunk, bilateral upper extremities, and neck associated with hyperhidrosis and nonspecific pain in the distribution of the nevus in addition to prominent upper extremity asymmetry and scoliosis. Similar musculoskeletal abnormalities have been reported in patients with phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica which feature speckled lentiginous nevus; however, this patient demonstrates striking musculoskeletal abnormalities in the absence of coexisting vascular lesions or nevus sebaceous.
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PMID:Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. 1970 91


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