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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Becker nevus syndrome is a phenotype characterized by the fundamental presence of Becker's nevus with ipsilateral hypoplasia of the breast or other skin, skeletal and/or muscular disorders. This syndrome generally originates at birth, intensifies significantly in adolescence and is one of the syndromes that constitute epidermal nevus syndrome. To the best of our knowledge, this is the first case published in the Brazilian literature of Becker nevus syndrome associated with Becker's nevus, ipsilateral breast hypoplasia and scoliosis in a 14-year-old girl.
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PMID:Becker nevus syndrome. 2067 75

CLOVES syndrome is a complex disorder of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies. We report the occurrence of spinal-paraspinal fast-flow lesions within or adjacent to the truncal overgrowth or a cutaneous birthmark in 6 patients with CLOVES syndrome.
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PMID:Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients. 2131 Aug 61

Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia.
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PMID:Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss. 2343 23

Nevus comedonicus is an uncommon skin abnormality characterized by an aggregation of dilated follicular orifices filled with keratinous material. Nevus comedonicus is occasionally complicated with other conditions including cataracts, skeletal defects, central nervous system abnormalities or other extra-cutaneous diseases (nevus comedonicus syndrome). Although most cases of nevus comedonicus occur unilaterally on the face, neck and chest, the lesions occasionally show a bilateral distribution (bilateral nevus comedonicus). We report here an unusual case of bilaterally disseminated nevus comedonicus with various systemic complications. A 62-year-old Japanese man presented with a 50-year history of numerous keratotic papules and comedo-like lesions, which gradually worsened with time. Physical examination revealed that the papules were skin-colored and 1-4 mm in diameter. Some papules had dark-black keratinous materials on their surface, giving them a comedo-like appearance. The lesions were located predominantly on the face, head, neck and trunk with symmetric distribution, following Blaschko's lines. The patient's past medical history was noteworthy; he had undergone surgical treatments for thyroid cancer, pneumothorax and schwannoma in the cauda equina. He also suffered from scoliosis, cervical spondylosis and atrial fibrillation. Histopathologic examination revealed dilated and invaginated follicular structures filled with lamellar keratin, compatible with nevus comedonicus. Our patient's case did not fit with any previously reported diseases, and we thought a diagnosis of "bilateral nevus comedonicus syndrome" was the most appropriate for our patient's condition. He was treated with topical retinoic acid and activated vitamin D3 ointment for 3 months each, but the lesions remained unchanged.
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PMID:Bilateral nevus comedonicus syndrome. 2403 Nov 54

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.
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PMID:CLOVES syndrome. 2416 72

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed.
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PMID:Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. 2478 30

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet).
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PMID:A Neonate with CLOVES Syndrome. 2540 Sep 66

Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). A workshop was convened at the National Institutes of Health (NIH) to discuss and develop a consensus document regarding diagnosis and treatment of patients with PIK3CA-associated somatic overgrowth disorders. Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient-advocacy and support groups. The umbrella term of "PIK3CA-Related Overgrowth Spectrum (PROS)" was agreed upon to encompass both the known and emerging clinical entities associated with somatic PIK3CA mutations including, macrodactyly, FAO, HHML, CLOVES, and related megalencephaly conditions. Key clinical diagnostic features and criteria for testing were proposed, and testing approaches summarized. Preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined. Future areas to address include the surgical management of overgrowth tissue and vascular anomalies, the optimal approach to thrombosis risk, and the testing of potential pharmacologic therapies.
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PMID:PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 2555 59

Capillary malformation (CM) can be a "red flag" for several syndromic vascular anomalies. We identified a subset of patients with diffuse CM and fetal pleural effusion and documented the type of CM, the etiology of the pleural effusion, the potential syndromic diagnosis, and outcome. Patients with a history of CM and fetal pleural effusion were identified by searching the database of patients evaluated at the Vascular Anomalies Center at Boston Children's Hospital. Standardized patient interviews and a retrospective review of records, photographs, and imaging studies were conducted. Five patients had diffuse CM and fetal pleural effusion. Two patients had macrocephaly-CM (M-CM), one had features of M-CM and CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis), and one had diffuse CM with overgrowth. The pleural fluid was chylous in four patients. One patient had thoracic lymphatic malformation. Recurrent effusion occurred in one patient coincident with pneumonia at age 11 years. Four patients had a history of reactive airway disease and episodic pulmonary infections. The diagnosis of vascular anomaly-overgrowth syndromes, particularly M-CM, should be considered in neonates with fetal pleural effusion.
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PMID:Diffuse capillary malformation in association with fetal pleural effusion: report of five patients. 2564 40

Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.
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PMID:An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome. 2581 66


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