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    2922 results match your criteria Congenital Nevi

    1 OF 59

    Congenital Atrophic Plaque: Fibroblastic Connective Tissue Nevus.
    Pediatr Dermatol 2017 May 23. Epub 2017 May 23.
    Department of Pathology, University Hospital of Salamanca, Salamanca, Spain.
    Fibroblastic connective tissue nevus (FCTN) is a rare, benign, dermal mesenchymal hamartoma that affects children. We report a 15-year-old boy with a congenital FCTN and describe the clinical, dermatoscopic, and histopathologic features. Read More

    Giant congenital melanocytic nevi: 40 years of experience with the serial excision technique.
    An Bras Dermatol 2017 Mar-Apr;92(2):256-259
    School of Medicine at Universidade de São Paulo (USP) - São Paulo (SP), Brazil.
    Although giant congenital melanocytic nevus is a rare lesion, it causes significant deformity and carries a risk of malignant degeneration. Different surgical techniques for the lesion removal are described, including serial resection, resection with skin grafting, and resection and coverage with expanded skin flap (skin expanders). The aim of this study is to report the author's 40 years of experience with cases requiring at least 4 serial excisions to complete the treatment. Read More

    Proliferative nodule in melanocytic nevi mimicking deep penetrating nevus.
    An Bras Dermatol 2017 Mar-Apr;92(2):231-233
    Department of Dermatology, San Cecilio University Hospital - Granada, Spain.
    Proliferative nodules can occasionally arise on congenital and acquired melanocytic nevi. At first sight their clinical and pathologic features cause alert to both dermatologist and dermatopathologist. However, proliferative nodules are typically benign, regression is common and there is minimum risk of malignization. Read More

    A prospective study of patients with large congenital melanocytic nevi and the risk of melanoma.
    An Bras Dermatol 2017 Mar-Apr;92(2):200-205
    Dermatology Unity - Hospital das Clinicas - Universidade Federal de Minas Gerais (UFMG) - Belo Horizonte (MG), Brazil.
    Background:: Large congenital melanocytic nevus (LCMN) is considered a risk factor for melanoma, although the magnitude of this risk is controversial.

    Objective:: To evaluate the risk of melanoma development in patients with LCMN seen at a dermatology referral center in Brazil during a twelve-year period. To the best of our knowledge, there are no published similar studies on large congenital melanocytic nevus in South America. Read More

    Giant congenital melanocytic nevi and malignant transformation: a case for early radical intervention.
    Pediatr Surg Int 2017 May 15. Epub 2017 May 15.
    Centre for Children's Burns and Trauma Research, Lady Cilento Children's Hospital, Brisbane, Australia.
    The purpose of this paper is to highlight the risk of early malignant transformation in infants with giant congenital melanocytic nevi (GN) and demonstrate the potential for earlier intervention with aggressive surgery. We describe the case of a child born with a GN who developed a metastatic melanoma early in life, despite early commencement of resection of the nevus. This is contrasted against a second case of a child in which a more radical management was conducted. Read More

    Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
    J Mol Diagn 2017 May 11. Epub 2017 May 11.
    Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address:
    Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome. Read More

    Complications of Post-Burn Tissue Expansion Reconstruction: 9 Years Experience with 42 Pediatric and 26 Adult Patients.
    Isr Med Assoc J 2017 Feb;19(2):100-104
    Department of Plastic and Reconstructive Surgery.
    Background: Burn scar reconstruction is extremely challenging, even for the most proficient reconstructive surgeon. Within the arsenal of tools at the plastic surgeon's disposal, tissue expansion provides an efficient modality for reconstruction despite the reported complication rates.

    Objectives: To critically review our experience with tissue expansion for burn scar reconstruction, comparing particularly the adult and pediatric populations. Read More

    ILVEN - COMPLETE REMISSION AFTER ADMINISTRATION OF TOPICAL CORTICOSTEROID (CASE REVIEW).
    Georgian Med News 2017 Feb(263):10-13
    Academic Teaching Hospital Dresden-Friedrichstadt, Department of Dermatology and Allergology; Medical Institute of Ministry of Interior (MVR), Department of Dermatology and Dermatologic Surgery, Sofia, Bulgaria.
    Inflammatory linear verrucous epidermal nevus (ILVEN) is a relatively rare disorder with an onset at early age, consisting of pruritic linear papules and/or plaques and histologic features resembling psoriasis or lichenoid dermatitis. The disease is a version of mosaicism caused by somatic mutations. ILVEN belongs to the heterogeneous group of congenital hamartomas of embryonal ectodermal origin, as a variant of verrucous epidermal nevus, representing approximately 5% of all epidermal nevi, with predominance in females and with general therapeutic resistance. Read More

    Paediatric melanoma.
    J Eur Acad Dermatol Venereol 2017 Apr 27. Epub 2017 Apr 27.
    University Department of Dermatology - Venereology, "Andreas Sygros" Hospital, Athens, Greece.
    Paediatric melanoma, although rare, is the most common skin cancer in children. Our current knowledge on paediatric melanoma incidence trends is expanding, as several studies have addressed this issue with conflicting results. Known risk factors for paediatric melanoma include family history of melanoma, a previous history of malignancy, large congenital nevi, numerous melanocytic nevi, sunburns, increased UV exposure and a sun-sensitive phenotype. Read More

    Quantification of Strain in a Porcine Model of Skin Expansion Using Multi-View Stereo and Isogeometric Kinematics.
    J Vis Exp 2017 Apr 16(122). Epub 2017 Apr 16.
    Division of Plastic Surgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine.
    Tissue expansion is a popular technique in plastic and reconstructive surgery that grows skin in vivo for correction of large defects such as burns and giant congenital nevi. Despite its widespread use, planning and executing an expansion protocol is challenging due to the difficulty in measuring the deformation imposed at each inflation step and over the length of the procedure. Quantifying the deformation fields is crucial, as the distribution of stretch over time determines the rate and amount of skin grown at the end of the treatment. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Apr 20. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    Giant proliferating trichilemmal cyst arising from a nevus sebaceus growing for 30 years.
    J Cutan Pathol 2017 Apr 17. Epub 2017 Apr 17.
    Department of Pathology, Dermatopathology Division, Sylvester Comprehensive Cancer Center and Miller School of Medicine, University of Miami, Miami, Florida.
    Nevus sebaceus of Jadassohn, a congenital cutaneous hamartoma, has the potential to develop into various epidermal adnexal-origin neoplasms. While the most common neoplasms are trichoblastoma or syringocystadenoma, proliferating trichilemmal cysts are exceptionally rare. We report a case of a 63-year-old Cuban male with a giant proliferating trichilemmal cyst arising from a nevus sebaceus on the right shoulder which had been growing for 30 years. Read More

    Evaluation and management of an unusual congenital nevus.
    Proc (Bayl Univ Med Cent) 2017 Apr;30(2):211-212
    Texas A&M College of Medicine (Kerwin, Menter), Baylor University Medical Center at Dallas (Menter), and Texas Dermatology Associates, P.A., Dallas, Texas (Menter).
    Abnormal findings on routine skin exams are common and can be a source of unnecessary medical workup if a clinician is unfamiliar with the finding. Sebaceous nevi are rare skin lesions that are most often benign but may be associated with a multiorgan syndrome or local skin cancer. Dermatologists and primary care physicians may encounter these on routine exams and thus must be comfortable with diagnosis and management. Read More

    Proteus Syndrome with Arteriovenous Malformation.
    Adv Biomed Res 2017 7;6:27. Epub 2017 Mar 7.
    Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. Read More

    Tissue expansion in the treatment of giant congenital melanocytic nevi of the upper extremity.
    Medicine (Baltimore) 2017 Mar;96(13):e6358
    aDepartment of Plastic Surgery bDepartment of Operating Theater, Henan Provincial People's Hospital, Zhengzhou City, Henan Province, China.
    The aim of our study was to use tissue expansion for the treatment of giant congenital melanocytic nevi of the upper extremity and examine potential advantages over traditional techniques.There were 3 stages in the treatment of giant congenital melanocytic nevi of the upper extremities using tissue expansion: first, the expander was inserted into the subcutaneous pocket; second, the expander was removed, lesions were excised, and the wound of the upper extremity was placed into the pocket to delay healing; third, the residual lesion was excised and the pedicle was removed. The pedicle flap was then unfolded to resurface the wound. Read More

    Clinico-Dermoscopic Features of Spitz Naevi by Age and Anatomic Site: A Study of 378 Spitz Naevi.
    Br J Dermatol 2017 Mar 27. Epub 2017 Mar 27.
    Dermatology Unit, Second University of Naples, Naples, Italy.
    Spitz naevi (SN) are benign melanocytic naevi characterized by spindled and epithelioid cells in histology seen in both children and adults. In the present study, we aimed to determine whether there is a difference in the dermoscopic features of SN by age and anatomic site. Previous studies have demonstrated this association in congenital and common naevi. Read More

    Giant benign intradermal melanocytic nevus of rapid onset.
    Dermatol Online J 2017 Feb 15;23(2). Epub 2017 Feb 15.
    Weill Cornell Medical College, New York, New York.
    Benign melanocytic nevi are slowly growing acquiredor congenital tumors with varied morphology,commonly encountered in dermatology clinics. Anytumor with rapid clinical growth must be assessedcarefully in order to exclude malignancy. We report awoman with a histopathologically benign intradermalnevus that presented as a rapidly evolving largecutaneous mass on the ear. Read More

    Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
    Am J Med Genet A 2017 Apr;173(4):978-984
    Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
    Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c. Read More

    Patterns of distribution of giant congenital melanocytic nevi (GCMN): The 6B rule.
    J Am Acad Dermatol 2017 Apr;76(4):689-694
    Melanoma Unit, Department of Dermatology, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; "Centro de Investigación Biomédica en Red en Enfermedades Raras, Instituto de Salud Carlos III", Barcelona, Spain. Electronic address:
    Background: Garment-related terms have been used to describe the pattern of distribution of giant congenital melanocytic nevi (GCMN).

    Objective: We sought to describe patterns of distribution of GCMN and propose a classification scheme.

    Methods: Photographic records of patients with GCMN from the Hospital Clinic of Barcelona were analyzed and a classification based on observed GCMN distribution patterns was created. Read More

    Ocular Features in a Case of Nevus of Ota.
    J Coll Physicians Surg Pak 2017 Mar;27(3):S56-S57
    Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Mall Road, Military Hospital, Rawalpindi.
    Oculodermal melanocytosis, also known as Nevus of Ota, is a hamartomatous melanocytic nevus of dermal melanocytes. It presents as a bluish grey patch on the face, which may be congenital or acquired involving the area of distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The nevus can be unilateral or bilateral, and, in addition to skin, it may involve ocular and oral mucosal surfaces. Read More

    Elastoma: clinical and histopathological aspects of a rare disease.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):39-41
    Universidade Federal de São Paulo (Unifesp) - São Paulo (SP), Brazil.
    Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Read More

    Congenital melanocytic nevus on the lower eyelid treated with continuous wave and superpulsed CO2 laser followed by erbium laser.
    J Cosmet Laser Ther 2017 Feb 17:1-3. Epub 2017 Feb 17.
    a Private Practice , Abrusci Studio , Milan , Italy.
    There are several therapeutic options to treat congenital melanocytic nevi. The motivations for the treatment of small- to medium-sized congenital nevi located on the face or other sensitive areas are frequently cosmetic. The choice of therapy depends on the operator's expertise and on the likelihood of improved cosmesis. Read More

    Melanoma and melanocytic nevi in paediatric patients: a single institution experience.
    G Ital Dermatol Venereol 2017 Mar 14. Epub 2017 Mar 14.
    Unità Operativa di Dermatologia, Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, Policlinico Sant'Orsola-Malpighi, Università di Bologna, Bologna, Italy.
    Background: Melanoma is an infrequent neoplasm in children and adolescents. The number of consultancies for melanocytic nevi control in the paediatric population is increased by the major anxiety of parents and paediatricians.

    Methods: A retrospective chart review was performed in order to evaluate the incidence rate of melanoma, Spitz nevi, congenital and acquired melanocytic nevi in patients aged 14 years or less and referred to our institution from April 2010 to September 2015. Read More

    Mass Spectrometry Imaging Can Distinguish on a Proteomic Level Between Proliferative Nodules Within a Benign Congenital Nevus and Malignant Melanoma.
    Am J Dermatopathol 2017 Feb 20. Epub 2017 Feb 20.
    *Department of Dermatology, Yale University School of Medicine, New Haven, CT; †Smilow Cancer Center, New Haven, CT; ‡Department of Plastic Surgery, Plastic Surgery Hospital, Peking Union Medical College and the Chinese Academy of Medical Science, Beijing, China; §Department of Dermatology, School of Medicine, University of Balamand, Beirut, Lebanon; ¶Department of Genetics, Yale School of Medicine, New Haven, CT; ‖Protea Biosciences, Inc, Morgantown, WV; and **Mass Spectrometry Research Center, Vanderbilt University, Nashville, TN.
    Histopathological interpretation of proliferative nodules occurring in association with congenital melanocytic nevi can be very challenging due to their similarities with congenital malignant melanoma and malignant melanoma arising in association with congenital nevi. We hereby report a diagnostically challenging case of congenital melanocytic nevus with proliferative nodules and ulcerations, which was originally misdiagnosed as congenital malignant melanoma. Subsequent histopathological examination in consultation by one of the authors (R. Read More

    Congenital melanocytic nevi in young children: Histopathologic features and clinical outcomes.
    J Am Acad Dermatol 2017 May 24;76(5):941-947. Epub 2017 Feb 24.
    Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
    Background: Although only large congenital melanocytic nevi (CMN) are associated with a significantly high risk for malignant transformation, CMN of all sizes are prone to changes in clinical appearance in early childhood and thus are often biopsied or excised. While CMNs typically exhibit benign behavior, atypical histopathologic findings might be common and may prompt additional unnecessary procedures.

    Objective: To assess the prevalence and associated clinical outcomes of atypical histopathologic features in CMN in children. Read More

    "Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.
    Pediatr Dermatol 2017 May 27;34(3):e142-e143. Epub 2017 Feb 27.
    Department of Dermatology, Hospital Universitario Virgen del Rocio, Sevilla, Spain.
    Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Read More

    Dermoscopic Findings of Scalp Aplasia Cutis Congenita.
    Skin Appendage Disord 2017 Jan 8;2(3-4):177-179. Epub 2016 Dec 8.
    Hair and Scalp Diseases, Outpatient Clinic, Division of Dermatology, Santa Casa de Misericórdia, Porto Alegre, Brazil.
    Aplasia cutis congenita (ACC) is a rare disease characterized by congenital absence of skin, affecting preferentially the scalp. Diagnosis is made clinically; however, recent studies have shown that dermoscopy can be a useful tool for the diagnosis and differentiation from sebaceous nevus. The clinical findings include a shiny atrophic alopecic patch associated with dermoscopic findings of absent follicular openings, thicker vessels and a distinct collar hypertrichosis. Read More

    Intense Pulsed Light Alone and in Combination with Erbium Yttrium-Aluminum-Garnet Laser on Small-to-Medium Sized Congenital Melanocytic Nevi: Single Center Experience Based on Retrospective Chart Review.
    Ann Dermatol 2017 Feb 3;29(1):39-47. Epub 2017 Feb 3.
    Department of Dermatology, Incheon St. Mary's Hospital, Incheon, Korea.
    Background: Treatment of congenital melanocytic nevi (CMN) with intense pulsed light (IPL) has recently produced promising results.

    Objective: To evaluate the clinical and histological outcomes of small-to-medium sized CMN treated with IPL alone and in combination with erbium: yttrium-aluminum-garnet (Er: YAG) laser.

    Methods: We performed a retrospective chart review of 26 small-to-medium sized CMN treated as described above. Read More

    Dermoscopic Features of Small, Medium, and Large-Sized Congenital Melanocytic Nevi.
    Ann Dermatol 2017 Feb 3;29(1):26-32. Epub 2017 Feb 3.
    Department of Dermatology, Bezmialem Vakif University, Istanbul, Turkey.
    Background: Congenital melanocytic nevi (CMN) are present at birth. It is well known that the presence of large-sized congenital nevus in early life could predict a major risk of developing melanoma.

    Objective: To investigate the clinical and dermoscopic features of the CMN, to search for and highlight any differences between small-sized, medium-sized, large-sized CMN. Read More

    Clinical course, treatment modalities, and quality of life in patients with congenital melanocytic nevi - data from the German CMN registry.
    J Dtsch Dermatol Ges 2017 Feb;15(2):159-167
    Department of Dermatology, University of Lübeck, Germany.
    Background: Congenital melanocytic nevi (CMN) are associated with mental stress as well as medical risks for those affected. The German CMN registry was initiated in 2005. Herein, we present results from an interim analysis focusing on disease course, treatment modalities, and quality of life. Read More

    Common Skin Conditions in Children: Congenital Melanocytic Nevi and Infantile Hemangiomas.
    FP Essent 2017 Feb;453:33-37
    University of North Carolina Chapel Hill School of Medicine Dermatology Residency Program, 410 Market St. Suite 400 CB#7715, Chapel Hill, NC 27516.
    Congenital melanocytic nevi (CMN) are hamartomas present at birth that are composed of nevomelanocytes and thought to originate from faulty migration of precursor melanocytes in the neural crest. Classification is based on projected adult size of the lesion. CMN size correlates positively with risk of melanoma and neurocutaneous melanocytosis. Read More

    Basal cell carcinoma arising in a congenital melanocytic naevus in an adult.
    BMJ Case Rep 2017 Feb 13;2017. Epub 2017 Feb 13.
    Queen Victoria Hospital NHS Foundation Trust, East Grinstead, West Sussex, UK.
    Congenital melanocytic naevi (CMN) are common skin lesions. They harbour a risk of malignant transformation, and various lesions have been described as developing within them. A basal cell cancer occurring within a CMN has never previously been described. Read More

    Congenital Melanocytic Nevus Syndrome: A Case Series.
    Actas Dermosifiliogr 2017 Jan 19. Epub 2017 Jan 19.
    Servicio de Anatomía Patológica, Complejo Hospitalario de Toledo, Toledo, España.
    Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Read More

    Recurrent GNAQ mutations in anastomosing hemangiomas.
    Mod Pathol 2017 May 13;30(5):722-727. Epub 2017 Jan 13.
    Department of Pathology, University of California, San Francisco, CA, USA.
    Anastomosing hemangiomas are recently described benign vascular lesions that occur chiefly in the genitourinary tract and paravertebral soft tissues. Owing to their rarity and unusual cytoarchitectural features, anastomosing hemangiomas are frequently confused with low-grade angiosarcomas. The specific genetic alterations underlying these lesions are currently unknown. Read More

    Melanoma in congenital melanocytic naevi.
    Br J Dermatol 2017 May 4;176(5):1131-1143. Epub 2017 Apr 4.
    Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, U.K.
    Congenital melanocytic naevi (CMN) are a known risk factor for melanoma, with the greatest risk currently thought to be in childhood. There has been controversy over the years about the incidence of melanoma, and therefore over the clinical management of CMN, due partly to the difficulties of histological diagnosis and partly to publishing bias towards cases of malignancy. Large cohort studies have demonstrated that melanoma risk in childhood is related to the severity of the congenital phenotype. Read More

    Evolution of Fibroblastic Connective Tissue Nevus in an Infant.
    Am J Dermatopathol 2017 Mar;39(3):225-227
    *Department of Pathology, West Virginia University, Morgantown, WV; and Departments of †Plastic Surgery, ‡Dermatology, §Pediatrics, and ¶Pathology, The Penn State Hershey Medical Center, Hershey, PA.
    Fibroblastic connective tissue nevus (FCTN) is a rare and recently described neoplasm of fibroblastic/myofibroblastic lineage. We report a case of a 1-month-old healthy male infant who presented with a dermal plaque on the upper chest since birth. A punch biopsy demonstrated a dermal spindle-cell neoplasm with variable smooth muscle actin positivity and negative staining for CD34, consistent with myofibroma. Read More

    Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
    Int Ophthalmol 2017 Jan 7. Epub 2017 Jan 7.
    Department of Ophthalmology, Allama Iqbal Medical College/Jinnah Hospital, Lahore, Pakistan.
    Purpose: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder. Read More

    Nevus Spilus (Speckled Lentiginous Nevus) in the Oral Cavity: Report of a Case and Review of the Literature.
    Am J Dermatopathol 2017 Jan;39(1):e8-e12
    *Department of Oral and Maxillofacial Pathology, Naval Postgraduate Dental School, Bethesda, MD; and †Department of Pathology, Walter Reed National Medical Military Center, Bethesda, MD.
    The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature. Read More

    Malignant Melanoma in Association With a Thymic Nevus in a Patient With a Giant Congenital Nevus.
    Am J Dermatopathol 2016 Dec 28. Epub 2016 Dec 28.
    *Institute of Pathology, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel; †Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡Department of Oncology, Soroka Medical Center, Beer Sheva, Israel; §Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel; ¶Institute of Pathology, Soroka Medical Center, Beer Sheva, Israel; and ‖Department of Cardiothoracic Surgery, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
    Nevi and melanocytic proliferations are known to appear in multiple extracutaneous sites, including lymph nodes and meninges. We report a case of an anterior mediastinal mass in a patient with a giant congenital nevus and neurofibromatosis type I. Histologically, the tumor was found to be a malignant melanoma in the thymus arising in association with a nevus that involved most of the thymic tissue. Read More

    Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications.
    Aesthetic Plast Surg 2017 Jun 28;41(3):591-599. Epub 2016 Dec 28.
    Division of Plastic Surgery, Department of Surgery, University of Pennsylvania, 14th Floor South Pavilion, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
    Background: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies. Read More

    Frequency of malformed infants in a tertiary center in Hokkaido, Japan over a period of 10 years.
    J Obstet Gynaecol Res 2017 Mar 17;43(3):505-510. Epub 2016 Dec 17.
    Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo, Japan.
    Aim: This retrospective study was performed to determine the frequency of malformed infants born at a tertiary center in Hokkaido, Japan. The accuracy of prenatal diagnosis rates was also investigated.

    Methods: An observational study was performed using data of 1509 and 1743 newborn infants at a single center during two study periods, 2005-2009 (first) and 2010-2014 (second), respectively. Read More

    [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Dec;33(6):878-882
    Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.
    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. Read More

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