Phacomatosis Pigmentokeratotica

Author:

Strano Serena1,Polizzi Agata2,Ruggieri Martino1,Garozzo Maria1,Mendola Flavia1,Marino Simona1,Pirrone Concetta3,Zanghì Antonio4,Lacarrubba Francesco5,Micali Giuseppe5,Schepis Carmelo6,Praticò Elena7,Praticò Andrea12

Affiliation:

1. Unit 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

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

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

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

5. Dermatology Clinic, University of Catania, Catania, Italy

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

7. Unit of Pediatrics, Carpi Hospital, Carpi, Italy

Abstract

AbstractIn 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.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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