Literature DB >> 25024780

Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica.

Thiago Cardoso Vale1, David Márcio Barbosa Santos2, Ricardo Oliveira Maciel2, Francisco Cardoso3, Rudolf Happle4.   

Abstract

Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of the disorder, we found multiple hypointense lesions involving the ipsilateral hemisphere.

Entities:  

Keywords:  atrophy; bones; congenital abnormalities; dysesthesia; neuropathy; nevus sebaceous; nevus spilus; unilateral

Year:  2014        PMID： 25024780      PMCID： PMC4094740          DOI： 10.3315/jdcr.2014.1174

Source DB:  PubMed          Journal:  J Dermatol Case Rep        ISSN： 1898-7249


  5 in total

1.  Speckled lentiginous nevus syndrome: central nervous system abnormalities as a critical diagnostic feature.

Authors:  Daniele Torchia; Lawrence A Schachner
Journal:  Pediatr Dermatol       Date:  2011 Nov-Dec       Impact factor: 1.588

2.  The group of epidermal nevus syndromes Part II. Less well defined phenotypes.

Authors:  Rudolf Happle
Journal:  J Am Acad Dermatol       Date:  2010-07       Impact factor: 11.527

3.  Phacomatosis pigmentokeratotica is a "pseudodidymosis".

Authors:  Rudolf Happle
Journal:  J Invest Dermatol       Date:  2013-08       Impact factor: 8.551

4.  Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Authors:  Leopold Groesser; Eva Herschberger; Ana Sagrera; Tor Shwayder; Katharina Flux; Laura Ehmann; Andreas Wollenberg; Antonio Torrelo; Lorea Bagazgoitia; Blanca Diaz-Ley; Sigrid Tinschert; Ilske Oschlies; Sebastian Singer; Marion Mickler; Agusti Toll; Michael Landthaler; Francisco X Real; Christian Hafner
Journal:  J Invest Dermatol       Date:  2013-01-21       Impact factor: 8.551

5.  Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).

Authors:  Luitgard M Neumann; Ianina Scheer; Jürgen Kunze; Brigitte Stöver
Journal:  Pediatr Radiol       Date:  2003-06-12
  5 in total

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