149 results match your criteria Connective Tissue Nevus

Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.

Am J Med Genet A 2022 Apr 20. Epub 2022 Apr 20.

Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Proteus syndrome (PS) is a rare segmental overgrowth disorder caused by a mosaic activating variant in AKT1. The features of PS are often not present at birth but develop during the first few years of life. We describe a 55-year-old female, whose first symptom of overgrowth, a cerebriform connective tissue nevus, occurred at 19 years of age. Read More

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Fibroblastic Connective Tissue Nevus Mimicking Lipoma on Ultrasound: Case Report and Brief Review.

Dermatopathology (Basel) 2022 Jan 17;9(1):32-34. Epub 2022 Jan 17.

Unit of Pathology, Department of Immunology, Genetics and Pathology, Uppsala University Hospital, Uppsala University, 75237 Uppsala, Sweden.

Fibroblastic connective tissue nevus (FCTN) is a rare, benign, and recently described dermal mesenchymal lesion characterized by CD34-positive spindle cells. We present a case of FCTN on the upper back of a 9-month-old boy who was diagnosed with a benign lipoma by ultrasound. Read More

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January 2022

Papulolinear collagenoma: a rare entity in children.

Dermatol Online J 2021 Sep 15;27(9). Epub 2021 Sep 15.

Pediatric Dermatology Unit, Pereira Rossell´s Hospital, Montevideo.

Papulolinear collagenoma is a rare kind of connective tissue nevus. It is a dermal hamartoma characterized by an increase in collagen. We report a young girl's collagen nevus with a papulolinear distribution. Read More

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September 2021

Proteus Syndrome: Case Report with Anatomopathological Correlation.

Fetal Pediatr Pathol 2021 Oct 20:1-4. Epub 2021 Oct 20.

Pediatric Surgery Department, Hospital Universitario La Paz, Madrid, Spain.

Background: Proteus syndrome is characterized by a progressive segmental or patchy growth of bone, skin, adipose tissue, and central nervous system, associated with a wide range of neoplasms, pulmonary pathology, and thrombotic risk. The main histological findings are diffuse patchy overgrowth of skin and subcutaneous tissue, plantar cerebriform connective tissue nevus, and ossification defects. We present a patient that met the clinical and histological criteria necessary for the diagnosis of the disease. Read More

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October 2021

Variable expressivity in Buschke-Ollendorff syndrome.

Ann Dermatol Venereol 2021 Sep 9. Epub 2021 Sep 9.

Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, 1070 Brussels, Belgium; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB, Center of Human Genetics, Université Libre de Bruxelles, 1020 Brussels, Belgium; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Campus de La Plaine, Boulevard du Triomphe, Building C, CP 263, 1050 Brussels, Belgium.

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September 2021

Update on Superficial Spindle Cell Mesenchymal Tumors in Children.

Dermatopathology (Basel) 2021 Jul 21;8(3):285-300. Epub 2021 Jul 21.

Department of Pathology, Necker-Enfants Malades Hospital, 75015 Paris, France.

The diagnosis of cutaneous and subcutaneous spindle cell neoplasms in children is often challenging and has potential therapeutic and prognostic implications. Although correctly diagnosing dermatofibrosarcoma protuberans and infantile fibrosarcoma is paramount, pathologists should not ignore a number of diagnostic pitfalls linked to mostly rare tumors with completely different clinical outcomes. In the last decade, a spectrum of novel entities has been described; information from molecular biology has helped to shape this new landscape for spindle cell tumors. Read More

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

In Vivo 2021 May-Jun;35(3):1583-1594

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany

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. Read More

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Subungual Elastofibroma.

Eckart Haneke

Skin Appendage Disord 2021 Jan 26;7(1):50-53. Epub 2020 Oct 26.

Department of Dermatology, Inselspital, University of Berne, Bern, Switzerland.

Cutaneous elastofibroma is part of the connective tissue nevus complex. Two subungual cases remotely similar to the one presented here have been described before. This patient presented with an unusual form of subungual elastofibroma of the big toe, which was surgically removed. Read More

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January 2021

Connective tissue nevus in Marfan Syndrome successfully treated with intralesional steroid injections.

Ital J Dermatol Venerol 2021 10 14;156(5):626-628. Epub 2020 Dec 14.

Department of Dermatology, Tor Vergata University of Rome, Rome, Italy.

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October 2021

Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

J Dermatol 2020 Sep 12;47(9):1063-1066. Epub 2020 Jul 12.

Department of Experimental, Diagnostic and Specialty Medicine - Division of Dermatology, University of Bologna, Bologna, Italy.

Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6-year-old patient who showed an unusual co-occurrence of bone hyperostosis and different skin lesions affecting the same side of the body: MEL, verrucous epidermal nevus, connective tissue nevus, linear scleroderma-like disorder, hyperpigmentation and hypertrichosis. The spatial co-occurrence of these conditions made us speculate as to whether they originated from a common genetic mechanism or if their co-occurrence was completely accidental. Read More

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September 2020

Plexiform Myofibroblastoma: Clinicopathologic Analysis of 36 Cases of a Distinctive Benign Tumor of Soft Tissue Affecting Mainly Children and Young Adults.

Am J Surg Pathol 2020 11;44(11):1469-1478

Department of Pathology, Brigham and Women's Hospital.

The spectrum of benign superficial fibroblastic/myofibroblastic tumors continues to expand and includes entities such as plexiform fibrohistiocytic tumor, dermatomyofibroma and fibroblastic connective tissue nevus. Here, we describe a seemingly distinctive group of lesions which we have labeled "plexiform myofibroblastoma" (PM). PM is a rare superficial mesenchymal tumor of fibroblastic/myofibroblastic lineage that predominantly occurs in children and young adults. Read More

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November 2020

Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.

J Cutan Pathol 2021 Jan 4;48(1):77-80. Epub 2020 Jul 4.

Department of Dermatology, Dermatology Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh-colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26-year-old male with multiple subcutaneous nodules on the waist and thigh for more than 20 years. Read More

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January 2021

Eruptive collagenoma: A rarely presented entity in childhood.

Australas J Dermatol 2020 Nov 6;61(4):e435-e436. Epub 2020 May 6.

Dermatology Department, Suleyman Demirel University Hospital, Isparta, Turkey.

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November 2020

Isolated plantar collagenoma in a young girl: a case report.

J Dtsch Dermatol Ges 2020 May 20;18(5):476-478. Epub 2020 Apr 20.

University Hospital Heidelberg, Department of Dermatology, Heidelberg, Germany.

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Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Mar;29(1):31-33

Department of Clinical and Molecular Sciences, Dermatological clinic, Polytechnic University of the Marche Region, Ancona, Italy.

Buschke-Ollendorff syndrome (BOS) is a rare genetic hereditary genodermatosis characterized by benign skeletal and cutaneous lesions. Skeletal alterations known as osteopoikilosis (OPK) or "spotted bone disease" are asymptomatic areas of sclerosing dysplasia. Two skin lesion patterns have been described because they may be of either elastic tissue (juvenile elastoma) or collagenous composition (dermatofibrosis lenticularis disseminata). Read More

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Partial spontaneous regression of pediatric large fibroblastic connective tissue nevus.

J Dermatol 2020 Jun 18;47(6):e232-e234. Epub 2020 Mar 18.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

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Agminated fibroblastic connective tissue nevus in a 1-year-old boy.

Pediatr Dermatol 2019 Nov 30;36(6):997-998. Epub 2019 Aug 30.

Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.

Fibroblastic connective tissue nevus (FCTN) is a benign cutaneous mesenchymal lesion characterized by proliferation of CD34-positive fibroblastic/myofibroblastic spindle-shaped cells. We report a case of agminated FCTN on the right lower abdomen of a 1-year-old boy. Read More

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November 2019

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

Cold Spring Harb Mol Case Stud 2019 08 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

The clinical diagnostic criteria for Proteus syndrome were defined before the discovery of the c.49G>A; p.(Glu17Lys) causal variant and used a combination of general and specific phenotypic attributes that could be combined to make a clinical diagnosis. Read More

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[A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].

Zhonghua Nei Ke Za Zhi 2019 Jul;58(7):508-513

Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Read More

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First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Am J Med Genet A 2019 07 6;179(7):1319-1324. Epub 2019 May 6.

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. The disease has high morbidity and mortality rates due to the increased risk for patients to develop cancer and progressive overgrowth. Read More

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Isolated collagenoma on the face: a rare occurrence.

Acta Dermatovenerol Alp Pannonica Adriat 2019 03;28(1):41-43

National Institute of Dermatology (VMMC), Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Collagenomas are connective tissue nevi with hamartomatous proliferations of dominant dermal collagen. They can present as solitary or multiple inherited or acquired lesions over various body sites. The face is a rare site of collagenomas and, of the few cases reported in the literature, they have been seen more often on the scalp or on the plantar area. Read More

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Medallion-like dermal dendrocyte hamartoma: A rare congenital CD34-positive dermal lesion clinically and pathologically overlapping with fibroblastic connective tissue nevus.

Pediatr Dermatol 2019 May 27;36(3):397-399. Epub 2019 Feb 27.

Department of Plastic and Reconstructive Surgery, Teikyo University Chiba Medical Center, Ichihara-shi, Chiba, Japan.

Both medallion-like dermal dendrocyte hamartoma and fibroblastic connective tissue nevus are rare benign dermal lesions composed of CD34-positive spindle cells. Although regarded as different diseases, it is sometimes difficult to distinguish between them due to their clinical and pathological similarities. We present a case of medallion-like dermal dendrocyte hamartoma that could also be diagnosed as fibroblastic connective tissue nevus and propose the possibility of overlap in these diseases. Read More

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Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.

Am J Hum Genet 2019 03 22;104(3):484-491. Epub 2019 Feb 22.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for Proteus syndrome. Miransertib is an AKT1 inhibitor that, prior to this study, has been evaluated only in adult oncology trials. Read More

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Cutaneous mucinosis of infancy: report of a rare case and review of the literature.

Dermatol Online J 2018 10 15;24(10). Epub 2018 Oct 15.

Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

Cutaneous mucinosis of infancy (CMI) is a rare dermatologic condition, first reported in 1980 and currently classified within the complex group of papular mucinoses. We report a case of CMI and review the prior 13 cases in the literature. The patient was a 5-year-old girl who presented with asymptomatic dermal papules and plaques on her leg and back with no overlying color change. Read More

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October 2018

Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report.

Virchows Arch 2019 Jan 6;474(1):111-115. Epub 2018 Sep 6.

Department of Dermatology, Unit of Pediatric Dermatology - CHRU Tours, Tours, France.

Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Read More

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January 2019

Mucinous Nevus.

Ann Dermatol 2018 Aug 28;30(4):465-467. Epub 2018 Jun 28.

Department of Dermatology, Ewha Womans University College of Medicine, Seoul, Korea.

Mucinous nevus is an uncommon entity classified as either a cutaneous mucinosis or a connective tissue nevus. The condition presents as grouped papules and coalescent plaques growing in a unilateral or zosteriform manner. The key histopathological feature is a band-like deposition of mucin in the superficial dermis. Read More

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Progress of an isolated collagenoma during pregnancy.

Australas J Dermatol 2019 Feb 24;60(1):e56-e57. Epub 2018 Jul 24.

Department of Pathology, Bahçeşehir University Faculty of Medicine, Istanbul, Turkey.

Collagenomas are connective tissue naevi composed predominantly of collagen. Isolated collagenomas are usually localized to a single body region, acquired, and of rare occurrence. We describe a patient with an isolated collagenoma that showed an increase in size during pregnancy and regressed afterwards. Read More

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February 2019

Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.

Pediatr Dermatol 2018 Sep 19;35(5):644-650. Epub 2018 Jul 19.

Services de Chirurgie Maxillo-Faciale et Plastique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Necker Enfants-Malades, Université Sorbonne Paris Cité, Université Paris Descartes, Paris, France.

Background: Fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis and the upper subcutis with preservation of adnexal structures. A subset of FCTN expresses CD34, which may cause difficulties in the differential diagnosis, in particular with dermatofibrosarcoma (DFSP). We aim to study clinical and histological main features of congenital FCTN to better understand their heterogeneity. Read More

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September 2018