Phacomatosis Pigmentokeratotica

Serena Strano; Agata Polizzi; Martino Ruggieri; Maria Teresa Garozzo; Flavia La Mendola; Simona Marino; Concetta Pirrone; Antonio Zanghì; Francesco Lacarrubba; Giuseppe Micali; Carmelo Schepis; Elena R. Praticò; Andrea D. Praticò

doi:10.1055/s-0038-1667132

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2018; 16(05): 313-318
DOI: 10.1055/s-0038-1667132

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Phacomatosis Pigmentokeratotica

Serena Strano

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

,

Agata Polizzi

²Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

,

Martino Ruggieri

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

,

Maria Teresa Garozzo

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

,

Flavia La Mendola

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

,

Simona Marino

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

,

Concetta Pirrone

³Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy

,

Antonio Zanghì

⁴Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy

,

Francesco Lacarrubba

⁵Dermatology Clinic, University of Catania, Catania, Italy

,

Giuseppe Micali

⁵Dermatology Clinic, University of Catania, Catania, Italy

,

Carmelo Schepis

⁶Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy

,

Elena R. Praticò

⁷Unit of Pediatrics, Carpi Hospital, Carpi, Italy

,

Andrea D. Praticò

¹Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy

⁸Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

› Institutsangaben

Abstract

In the group of the epidermal nevus syndromes, Happle defined in 1996 a separate entity characterized by the presence of an organoid epidermal nevus, sometimes showing sebaceous differentiation, and a speckled lentiginous nevus of the papular type, occasionally associated with extracutaneous anomalies including neurological, ophthalmological, and skeletal abnormalities. In particular, the syndrome is associated with mental retardation, epilepsy, deafness, hemiatrophy, dysesthesia, and hyperhidrosis, strabismus, lipodermoid of conjunctiva, coloboma and ptosis, and kyphosis, scoliosis, limb asymmetry, and hypertrophy. Rarely, hypertension, vascular abnormalities, atrioventricular block, hypophosphatemic rickets, and pheochromocytoma may occur. The organoid nevus follows the lines of Blaschko whereas the speckled lentiginous nevus is arranged in a checkerboard pattern. For this syndrome, the term “Phacomatosis Pigmentokeratotica” has been coined and, at the present, it is considered a very rare clinical entity, with less than 20 cases reported in the literature. Recent genetic findings have included this syndrome in the group of the mosaic RASopathies, after the discovery of mutations in the HRAS gene occurring in both sebaceous and vascular nevi, but not in nonaffected tissues.

Keywords

epidermal nevi - speckled lentiginous nevus - neurological abnormalities - systemic involvement - limb asymmetry - HRAS gene

Volltext

Referenzen

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