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    Vascular twin nevi.
    Am J Med Genet A 2017 Apr 27. Epub 2017 Apr 27.
    Dermatology Clinic, Haseki Education and Training Hospital, Aksaray, İstanbul, Turkey.
    Vascular twin nevi (VTN) are characterized by the simultaneous dermatological manifestatiton of a telangiectatic naevus close to a nevus anemicus. Nevus anemicus (NA) is a vascular anomaly characterized by localized pale patches with normal melanine and melanocyte level. According to twin spotting phenomenon crossing-over in heterozygous somatic-cells during mitosis results in two different offspring homozygous cells. Read More

    Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.
    Pediatr Dermatol 2017 Mar 20. Epub 2017 Mar 20.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Background/objectives: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1.

    Methods: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015. Read More

    Mixed vascular nevus syndrome: a report of four new cases and a literature review.
    Quant Imaging Med Surg 2016 Oct;6(5):515-524
    Department of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.
    Background: Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e. Read More

    Nevus Anemicus As an Additional Diagnostic Marker of Neurofibromatosis Type 1 in Childhood.
    Neuropediatrics 2016 Jun 28;47(3):190-3. Epub 2016 Mar 28.
    Department of Pediatrics, Sana Kliniken Duisburg, Wedau Kliniken, Duisburg, Germany.
    Diagnosis of neurofibromatosis type 1 (NF1) can be established when at least two out of seven defined clinical findings are present. However, a definite clinical diagnosis may be challenging, especially in young children. Therefore, we tried to identify additional clinical signs suggestive of NF1. Read More

    An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.
    Actas Dermosifiliogr 2016 Jul-Aug;107(6):465-73. Epub 2016 Mar 5.
    Servicio de Neurología, Hospital Infantil del Niño Jesús, Madrid, España.
    Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on clinical observations. The 7 diagnostic criteria of the National Institutes of Health, which were established in 1988, include 3 skin manifestations (café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas). Read More

    Nevus anemicus associated with neurofibromatosis type 1 in a neonate: a case report.
    G Ital Dermatol Venereol 2015 Dec;150(6):745-7
    Department of Pediatrics, L. Sacco Hospital, University of Milan, Milan, Italy -
    Neurofibromatosis type 1 (NF1) is a multisystemic autosomal dominant disease affecting approximately 1 individual in 3500. The diagnostic criteria developed by NIH in 1988 allow unequivocal diagnosis in all cases but the youngest children. Due to the variable phenotypic expression, the diagnosis of NF1 in the youngest may be challenging, particularly when the distinctive cutaneous lesions are missing. Read More

    The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.
    An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):10-2
    Third Affi liated Hospital, Sun Yat-sen Universit, Guangdong, CN.
    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. Read More

    Adnexal polyp in a newborn baby.
    Dermatol Online J 2015 May 18;21(5). Epub 2015 May 18.
    Università degli Studi di Milano, San Paolo Hospital, Milan, Italy.
    Birthmarks can frequently be seen in newborn babies, but their etiopathogenesis is often unclear. These lesions can be divided into three groups: vascular birthmarks, pigmented birthmarks, and birthmarks resulting in abnormal development. Some birthmarks may require further analysis and clinical follow-up in order to rule out underlying defects, malignant potential, or correlation with syndromic diseases. Read More

    What's new with common genetic skin disorders?
    Curr Opin Pediatr 2015 Aug;27(4):460-5
    Department of Dermatology, Medical Genetics and Pediatric and Adolescent Medicine, Rochester, Minnesota, USA.
    Purpose Of Review: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients. Read More

    Nevus anemicus: a distinctive cutaneous finding in neurofibromatosis type 1.
    Pediatr Dermatol 2015 May-Jun;32(3):342-7. Epub 2015 Feb 18.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Nevus anemicus (NA) is a cutaneous anomaly characterized by pale, well-defined patches with limited vascularization after rubbing. They are largely known to be associated with neurofibromatosis 1 (NF1) and have received little attention in the literature until recently. We sought to characterize the prevalence and clinical features of patients with NA and NF1. Read More

    Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.
    Br J Dermatol 2015 Feb 11;172(2):450-4. Epub 2014 Dec 11.
    Department of Dermatology, Son Espases University Hospital, Ctra de Valldemosa 79, 07010, Palma de Mallorca, Spain.
    Background: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is associated with multifocal small CMs and a high risk for high-flow lesions. It is an autosomal dominant disorder, caused by RASA1 gene mutations. Recently, two novel clinical features have been identified: numerous small pale halos with central punctate red spots, and naevus anemicus. Read More

    Mongolian spots: How important are they?
    World J Clin Cases 2013 Nov;1(8):230-2
    Divya Gupta, Devinder Mohan Thappa, Department of Skin and STD, JIPMER, Puducherry 605006, India.
    Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Read More

    Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.
    JAMA Dermatol 2014 Jan;150(1):42-6
    Dermatology, Centre Hospitalier Universitaire de Dijon3Research Unit EA 4271 Génétique des Anomalies du Développement, Université de Bourgogne, PRES Bourgogne-Franche Comté, France4Centre de Compétence Maladies Rares Neurofibromatose 1, Dijon, France.
    Importance: The diagnosis of neurofibromatosis type 1 (NF1) is based on 7 clinical criteria. However, they are of limited value before the age of 2 years. Juvenile xanthogranuloma (JXG) and nevus anemicus (NA) are commonly observed in children with NF1 and may be useful diagnostic clues. Read More

    Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.
    J Am Acad Dermatol 2013 Nov 21;69(5):768-75. Epub 2013 Aug 21.
    Department of Dermatology, Caremeau Hospital, CHU (Centre Hospitalier Universitaire) Nîmes, Nîmes, France.
    Background: Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to confirm the diagnosis.

    Objective: We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications.

    Methods: This was a prospective multicenter case-control study of 210 consecutive patients with multiple CALMs. Read More

    Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
    Am J Med Genet A 2012 Nov 18;158A(11):2870-80. Epub 2012 Sep 18.
    Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy.
    The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Read More

    Phakomatosis pigmentovascularis type IIb in association with external hydrocephalus.
    BMJ Case Rep 2012 Jun 25;2012. Epub 2012 Jun 25.
    Department of Child Health, University of Benin Teaching Hospital, Benin City, Edo State, Nigeria.
    Phakomatosis pigmentovascularis (PPV) is a rare sporadic genetic disorder characterised by co-occurrence of an extensive vascular nevus and a large pigmentary nevus with or without extracutaneous manifestations. There are four types of PPV with subtype 'a' for cutaneous involvement only and subtype 'b' for cutaneous and systemic involvement. PPV type IIa consists of nevus flammeus, Mongolian spots and sometimes nevus anemicus. Read More

    An acquired anemic patch developed after a cyst excision: is it a variant of nevus anemicus?
    Ann Dermatol 2012 Feb 2;24(1):84-6. Epub 2012 Feb 2.
    Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
    A 53-year-old male presented with a 6-year duration of a child's-palm sized hypopigmented patch located on his neck. He had a history of surgical excision of an epidermal cyst on the neck, and the hypopigmented patch developed about one month after the excision next to the surgery site. Application of cold or heat did not make the lesion distinct from the surrounding skin. Read More

    In vivo reflectance confocal microscopy imaging of vitiligo, nevus depigmentosus and nevus anemicus.
    Skin Res Technol 2011 Nov 24;17(4):404-10. Epub 2011 Mar 24.
    Department of Dermatology, Third People's Hospital of Hangzhou, Hangzhou Institute of Dermatology and Venereology, Hangzhou, China.
    Background/purpose: Hypopigmentary skin disorders such as vitiligo, nevus depigmentosus and nevus anemicus are common diseases in clinic. The lesions of these diseases could be similar to some extent, although each of them has its own characteristic clinical appearance and histological features. Clinically, the atypical lesions are often difficult to be differentiated. Read More

    Pityriasis alba revisited: perspectives on an enigmatic disorder of childhood.
    Cutis 2011 Feb;87(2):66-72
    New Jersey Medical School, Newark , NJ 07103 USA.
    Pityriasis alba (PA) is a localized hypopigmented disorder of childhood with many existing clinical variants. It is more often detected in individuals with a darker complexion but may occur in individuals of all skin types. Atopy, xerosis, and mineral deficiencies are potential risk factors. Read More

    What is a capillary malformation?
    J Am Acad Dermatol 2008 Dec;59(6):1077-9
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany.
    Today, the designation "capillary malformation" is widely used as a modern name for what was formerly called a nevus flammeus or port-wine stain. This new terminology, however, is inaccurate and ambiguous. There are at least nine different skin disorders fulfilling the criteria of a capillary malformation. Read More

    Phacomatosis cesioflammea with unilateral lipohypoplasia.
    Am J Med Genet A 2008 Feb;146A(4):492-5
    Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.
    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i. Read More

    Primary choroidal melanoma in phakomatosis pigmentovascularis IIa.
    Ophthalmology 2005 Jul;112(7):1232-5
    Jules Gonin University Eye Hospital, Lausanne, Switzerland.
    Purpose: To describe a previously unreported association between phakomatosis pigmentovascularis (PPV) IIa and primary choroidal melanoma.

    Design: Case series.

    Participants: Three patients with PPV type IIa and choroidal melanoma. Read More

    Nevus anemicus.
    Dermatology 1999 ;198(4):327-9
    Dermatology, New Jersey Medical School, Newark, NJ 07103-2714, USA.
    Nevus anemicus (NA) is a congenital localized cutaneous anomaly most often seen on the trunk. It represents a pale-colored irregularly shaped patch of histologically normal-appearing skin in which the pharmacological response to certain mediators may be aberrant, with sympathetic vasoconstriction likely responsible for the pallor. Hence, it has been called a pharmacological nevus. Read More

    Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.
    Pediatr Dermatol 1999 Jan-Feb;16(1):25-30
    Clinica Dermatologica V, Universita' degli Studi di Milano, Bergamo General Hospital Bergamo,
    We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Read More

    Generalized nevus spilus and nevus anemicus in a patient with a primary lymphedema: a new type of phakomatosis pigmentovascularis?
    Pediatr Dermatol 1998 Jul-Aug;15(4):293-5
    Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Spain.
    A patient with a generalized nevus spilus associated with a nevus anemicus and primary lymphedema is reported. We believe that this association does not reflect the merely coincidental coexistence of three kinds of anomalies but that it may represent a new type of phakomatosis pigmentovascularis. Read More

    [Combined naevus flammeus and naevus fuscocoeruleus: phacomatosis pigmentovascularis type IIa].
    Hautarzt 1997 Sep;48(9):653-6
    Klinik für Dermatologie und Venerologie, Medizinische Universität zu Lübeck.
    The association of nevus flammeus with mongolian spot, nevus fuscoceruleus, nevus spilus and, with variable frequency, with nevus anemicus has been termed phacomatosis pigmentovascularis, a genodermatosis first described by Ota and co-workers. Four different combinations have been specified. Most cases are reported from the Japanese literature. Read More

    Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels.
    J Am Acad Dermatol 1997 Oct;37(4):523-49; quiz 549-52
    Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
    Classification of cutaneous vascular anomalies is difficult because conceptual confusion persists between vascular neoplasms and malformations. However, hemangiomas of the infancy fulfill criteria both for hyperplasia and neoplasm because they result from proliferation of endothelial cells, but often undergo complete regression. Despite these pitfalls we have classified cutaneous vascular anomalies into the following categories: hamartomas, malformations, dilatations of preexisting vessels, hyperplasias, benign neoplasms, and malignant neoplasms. Read More

    Loss of cutaneous delayed hypersensitivity reactions in nevus anemicus. Evidence for close concordance of cutaneous delayed hypersensitivity and endothelial E-selectin expression.
    Arch Dermatol 1997 May;133(5):617-20
    Department of Dermatology, Faculty of Medicine, Mie University, Japan.
    Background: The relationship of adhesion molecules in the dermis to immunologically mediated cutaneous inflammation can be understood by focusing on a serendipitous phenomenon: a lack of dermatitis within the margins of a nevus anemicus (NA) in generalized contact dermatitis. The expression and induction of endothelial and epithelial adhesion molecules with intradermally injected cytokines were investigated.

    Observations: Nevus anemicus without dermatitis lacked histopathological changes consistent with inflammatory cellular infiltration. Read More

    Phakomatosis pigmentovascularis.
    Pediatr Dermatol 1996 Jan-Feb;13(1):33-5
    Subdivision of Pediatric Dermatology, Sophia Children's Hospital/University Hospital, Rotterdam, The Netherlands.
    We report a patient with phakomatosis pigmentovascularis IIb and numerous iris hamartomas. Phakomatosis pigmentovascularis IIb is characterized by the simultaneous occurrence of a nevus flammeus, a mongolian spot, and sometimes a nevus anemicus in the same individual, with systemic involvement. To our knowledge, the association with multiple iris hamartomas has been reported only once. Read More

    Pigmentary disorders in oriental skin.
    Clin Dermatol 1989 Apr-Jun;7(2):11-27
    Division of Dermatology and Cutaneous Sciences, University of Alberta, Faculty of Medicine, Edmonton, Canada.
    Brown hyperpigmented disorders may be melanotic in which there is a normal number of epidermal melanocytes but melanin pigment is increased in the epidermis (eg, melasma), melanocytotic, in which melanocytes are increased (eg, café-au-lait macules), and nonmelanotic hyperpigmentation (eg, minocycline pigmentation). Blue hyperpigmented disorders may also be melanotic in which there is a normal number of epidermal melanocytes, but melanin pigment is present in the upper dermis (eg, gray/slate pigmentation in Riehl's melanosis), melanocytotic in which melanocytes are present in both the epidermis and dermis (eg, blue pigmentation in Nevus Ota and Mongolian spot), and nonmelanotic hyperpigmentation in which pigment is present in the deep dermis (eg, blue pigmentation in tattoos). Hypomelanosis (leukoderma) may be divided histopathologically into melanocytopenic disorders on which melanocytes are absent (eg, Vogt-Koyanagi-Harada syndrome and vitiligo), melanopenic disorders in which melanocytes are present but melanin is reduced (eg, nevus depigmentosus and incontinentia pigmenti achromians), and nonmelanotic disorders in which melanin pigmentation is unaffected (nevus anemicus) and the pigmentary abnormality is caused by something other than melanin. Read More

    [Congenital hemihypertrophy associated with cutaneous pigmento-vascular, cerebral, visceral and bone abnormalities].
    Ann Dermatol Venereol 1987 ;114(5):665-9
    A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Read More

    Nevus oligemicus. A variant of nevus anemicus.
    Arch Dermatol 1981 Feb;117(2):111-3
    A man had a long history of a persistent, fixed area of livid erythema on the trunk. The distribution of hair, sweat, and sensation were normal as were the histologic findings in the affected skin. The involved area had a decreased total skin blood flow and a lower surface temperature compared with surrounding uninvolved skin, but showed normal responses to vasoconstrictor and vasodilator stimuli. Read More

    [Acquired generalized anemic nevus].
    Dermatologica 1981 ;163(3):276-81
    We are reporting a case of generalized nevus anemicus in an adult, which was not associated with phacomatosis or pheochromocytoma. The pharmacological investigation of the vasomotricity showed permanent vasoconstriction in the anemic areas. The cutaneous levels of catecholamines were seven times as high in the anemic areas as in the sound areas. Read More

    [The significance of adrenergic receptors for the development of nevus flammeus and nevus anemicus (author's transl)].
    Wien Klin Wochenschr Suppl 1981 ;129:1-14
    Examination of patients with nevus flammeus or nevus anemicus showed disturbed sensibility in the area of the nevus in the majority of cases. Histologically and with special technique of histochemistry and fluorescencemicroscopy there was no evidence for neurogenic lesions. However, signs of vegetative dysfunction were present: hyperhidrosis and absent reactivity of vasculature in the nevus area to vasoconstrictive and vasodilatatory stimuli. Read More

    Multiple vascular anomalies: report of a case.
    J Dermatol Surg Oncol 1978 Sep;4(9):684-6
    A patient with multiple congenital vascular anomalies is described. The lesions are a nevus flammeus on the face, a nevus anemicus on the trunk, and asymmetric reticulated mottling of a lower extremity that had undergone spontaneous ulceration. The characteristics of these lesions are reviewed and the difficulty of differential diagnosis of the reticulated lesion is discussed. Read More

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