63 results match your criteria Nevus Anemicus

Cutaneous manifestations not considered diagnostic criteria for Neurofibromatosis type 1. A case-control Study.

Actas Dermosifiliogr 2022 May 27. Epub 2022 May 27.

Servicio de Dermatología, Hospital Infantil Universitario Niño Jesús, Madrid, España.

Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.

Patients And Methods: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Read More

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Congenital Pigmentary Anomalies in the Newborn.

Neoreviews 2021 10;22(10):e660-e672

Division of Dermatology, Children's National Hospital, Washington, DC.

Congenital pigmentary anomalies may be evident at birth or soon after, with some birthmarks becoming apparent later in infancy or early childhood. It is important to recognize various pigmentary anomalies in the neonate, most of which are benign but a subset of which are associated with cutaneous morbidity or systemic ramifications and require further evaluation. This review will focus on pigmentary mosaicism, congenital melanocytic nevi, nevus spilus, dermal melanocytosis, and pigmentary anomalies associated with neurofibromatosis type 1 (café au lait spots, freckling, plexiform neurofibromas, nevus anemicus), tuberous sclerosis (hypomelanotic macules), and incontinentia pigmenti. Read More

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October 2021

Cutaneous Findings in Neurofibromatosis Type 1.

Cancers (Basel) 2021 Jan 26;13(3). Epub 2021 Jan 26.

Dermatology Unit, University of Campania Luigi Vanvitelli, 80100 Naples, Italy.

Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. Read More

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January 2021

Nevus depigmentosus: the analysis of 37 cases.

Ital J Dermatol Venerol 2021 02 23;156(1):62-67. Epub 2020 Nov 23.

Department of Dermatology, Baghdad Medical City Complex, Baghdad, Iraq.

Background: Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting disorders and focused on distinguishing ND from vitiligo and tuberous sclerosis complex in infancy.

Methods: The diagnosis of patients with nevus depigmentosus was made differentiating it from nevus anemicus, pityriasis alba, tuberous sclerosis complex, vitiligo and other depigmenting disorders. Read More

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February 2021

Cutaneous manifestations in neurofibromatosis type 1.

Clin Ter 2020 Sep-Oct;171(5):e371-e377

Dermatologic Clinic, "Sapienza" University of Rome, Rome.

Objective: To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1.

Materials And Methods: We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist. Read More

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November 2020

Nevus anemicus in neurofibromatosis type 1.

Ital J Dermatol Venerol 2021 Dec 3;156(Suppl. 1 to No. 6):103-104. Epub 2020 Mar 3.

Department of Dermatology and Venereology, Umberto I Polyclinic Hospital, Sapienza University, Rome, Italy.

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December 2021

Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.

Indian Dermatol Online J 2020 Jan-Feb;11(1):91-93. Epub 2019 Sep 26.

Department of Dermatology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.

Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Read More

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September 2019

[Syndromes with vascular skin anomalies].

Rudolf Happle

Hautarzt 2019 Jul;70(7):474-480

Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland.

Background: In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.

Objective: To render dermatologists in practice capable of recognizing and classifying such cutaneous markers.

Material And Methods: On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication. Read More

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Nevus depigmentosus: review of a mark of distinction.

Int J Dermatol 2019 Dec 22;58(12):1366-1370. Epub 2019 Feb 22.

Dermatology, Pediatric Medicine, and Pathology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Nevus depigmentosus (ND), also known as nevus achromicus or achromic nevus, is an uncommon congenital hypomelanosis of the skin that is often characterized as being nonprogressive and having serrated borders. It needs to be distinguished from other hypopigmented skin conditions such as nevus anemicus, hypomelanosis of Ito, Fitzpatrick patches (ash leaf spots) of tuberous sclerosis, vitiligo, indeterminate leprosy, and pigment demarcation lines. Treatment may be desired for aesthetic and possible psychosocial considerations. Read More

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December 2019

Common Neonatal Skin Lesions: Melanocytic Nevi, Pigment Alterations, and Nonmelanocytic Nevi.

Pediatr Ann 2019 Jan;48(1):e23-e29

Birthmarks are common in the healthy population and are generally harmless. Certain presentations, however, raise concern for associated syndromes or potential complications. It is important for pediatricians to be familiar with both harmless and potentially concerning birthmarks. Read More

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January 2019

Nevus anemicus: An island of sparing in the setting of drug-induced hypersensitivity.

JAAD Case Rep 2018 Jul 28;4(6):615-617. Epub 2018 Jun 28.

Columbia University Medical Center Department of Dermatology, New York, New York.

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Nevus anemicus and RASopathies.

JAAD Case Rep 2018 May 6;4(4):390-391. Epub 2018 Apr 6.

Department of Human Genetics, University Hospital Leuven, Leuven, Belgium.

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Vascular twin nevi.

Am J Med Genet A 2017 Jul 27;173(7):1919-1921. 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

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Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.

Pediatr Dermatol 2017 May 20;34(3):271-276. 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

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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

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October 2016

Progredient dermatophytosis and nevus anemicus: a pathogenetic mediated relationship.

Wien Med Wochenschr 2017 03 30;167(3-4):83-84. Epub 2016 Aug 30.

"Onkoderma" - Policlinic for Dermatology, Venereology and Dermatologic Surgery, General Skobelev 26, Sofia, Bulgaria.

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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

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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

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October 2017

Nevus Anemicus and Bier Spots in Tuberous Sclerosis Complex.

JAMA Dermatol 2016 Feb;152(2):217-8

Faculté de Médecine, Université de Strasbourg, Strasbourg, France2Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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February 2016

Co-occurrence of nevus anemicus and Becker nevus: a possible instance of pseudodidymosis?

Int J Dermatol 2016 Apr 31;55(4):e219-20. Epub 2015 Oct 31.

Department of Dermatology, San Carlo Hospital, Potenza, Italy.

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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

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December 2015

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

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January 2016

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

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What's new with common genetic skin disorders?

Jennifer L Hand

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

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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

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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

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February 2015

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

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November 2013

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

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January 2014

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

J Am Acad Dermatol 2013 Nov 21;69(5):768-775. Epub 2013 Aug 21.

Center of Competence for Neurofibromatosis, CHU Montpellier, Montpellier, France; University of Montpellier 1, Department of Dermatology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France; Center of Competence for Pediatric Genetic Skin Disorders, CHU Montpellier, Montpellier, France. Electronic address:

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

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November 2013