ABSTRACT
Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes.
Subject(s)
Epidermis/pathology , Keratinocytes/pathology , Nevus/classification , Skin Neoplasms/classification , Abnormalities, Multiple/classification , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Darier Disease/classification , Darier Disease/pathology , Genetic Association Studies , Genetic Diseases, X-Linked/classification , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/pathology , Humans , Ichthyosiform Erythroderma, Congenital/classification , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosiform Erythroderma, Congenital/pathology , Limb Deformities, Congenital/classification , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/pathology , Mosaicism , Mutation , Nevus/genetics , Nevus/pathology , Pemphigus, Benign Familial/classification , Pemphigus, Benign Familial/pathology , Proteus Syndrome/classification , Proteus Syndrome/genetics , Proteus Syndrome/pathology , Skin Neoplasms/genetics , Skin Neoplasms/pathology , SyndromeABSTRACT
Vascular malformations are anomalies always present at birth that, contrary to hemangiomas, never regress and may grow during lifetime. Clinical presentation of vascular malformations is extremely variable and ranges from asymptomatic spots of mere aesthetic concern to lesions with high blood flow or located in critical sites that may be life-threatening. Given the low incidence of these disorders it is difficult to establish therapeutic guidelines. In addition to a correct classification of vascular anomalies, it is necessary a multidisciplinary approach for the follow-up and management of these patients. The first part of this review focuses on the different classifications of vascular anomalies, maintaining as reference the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA). Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed.
Subject(s)
Arteriovenous Malformations , Hemangioma , Skin Diseases/congenital , Skin Neoplasms/congenital , Angiomatosis/classification , Angiomatosis/congenital , Angiomatosis/pathology , Arteriovenous Malformations/classification , Arteriovenous Malformations/pathology , Female , Glomus Tumor/classification , Glomus Tumor/pathology , Hemangioma/classification , Hemangioma/congenital , Hemangioma/pathology , Humans , Infant, Newborn , Intracranial Arteriovenous Malformations/classification , Intracranial Arteriovenous Malformations/pathology , Klippel-Trenaunay-Weber Syndrome/classification , Klippel-Trenaunay-Weber Syndrome/pathology , Lymphangioma/classification , Lymphangioma/pathology , Male , Port-Wine Stain/classification , Port-Wine Stain/pathology , Proteus Syndrome/classification , Proteus Syndrome/pathology , Remission, Spontaneous , Skin Diseases/classification , Skin Diseases/pathology , Skin Neoplasms/classification , Skin Neoplasms/pathology , Sturge-Weber Syndrome/classification , Sturge-Weber Syndrome/pathology , SyndromeSubject(s)
Gigantism , Beckwith-Wiedemann Syndrome/classification , Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/genetics , Beckwith-Wiedemann Syndrome/therapy , Diagnosis, Differential , Fetal Macrosomia/classification , Fetal Macrosomia/diagnosis , Fetal Macrosomia/genetics , Fetal Macrosomia/therapy , Gigantism/classification , Gigantism/diagnosis , Gigantism/genetics , Gigantism/therapy , Humans , Mutation/genetics , Neurofibromatoses/classification , Neurofibromatoses/diagnosis , Neurofibromatoses/genetics , Neurofibromatoses/therapy , Proteus Syndrome/classification , Proteus Syndrome/diagnosis , Proteus Syndrome/genetics , Proteus Syndrome/therapyABSTRACT
We report on a woman with unilateral macrosyndactyly of the second and third toes, a local plantar soft tissue lump, and radiographically an abnormal shape of the phalanges of the affected toes. This finding may represent either an isolated macrosyndactyly or an extremely localised form of Proteus syndrome.
Subject(s)
Proteus Syndrome/classification , Syndactyly/classification , Toes/abnormalities , Adult , Child , Cleft Lip/genetics , Cleft Palate/genetics , Diagnosis, Differential , Female , Genetic Counseling , Humans , Male , Proteus Syndrome/diagnosis , Syndactyly/diagnosisABSTRACT
We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions.
