Literature DB >> 11125327

Delleman syndrome: report of a case with a mild phenotype.

S Cambiaghi1, P S Levet, G Guala, D Baldini, R Gianotti.   

Abstract

Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.

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Year:  2000        PMID: 11125327

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  2 in total

1.  A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome).

Authors:  Iris Alessandra S Pardo; Marie Eleanore O Nicolas
Journal:  J Dermatol Case Rep       Date:  2013-06-30

2.  Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis.

Authors:  Sinead Culleton; Christen D Barras; Hamed Asadi; Seamus Looby; Paul Brennan; Hong Kuan Kok
Journal:  Case Rep Neurol Med       Date:  2016-11-02
  2 in total

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