Literature DB >> 9805547

[Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I].

P Vabres1, P de Lonlay, J Amiel, S Lyonnet, A Munnich, Y de Prost.   

Abstract

BACKGROUND: Diagnosis of neurofibromatosis type I (NF-1) relies on the NIH consensus conference criteria. However, because of delayed penetrance, they are of limited value in infancy or early childhood. Less frequent signs, namely blue-red and fusco-ceruleus macules, may be clues for diagnosis. CASE REPORTS: We report on two children, aged 2 1/2 and 5, in whom these cutaneous findings were present early in childhood. In addition, they had sufficient criteria for NF1. DISCUSSION: These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.

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Year:  1998        PMID: 9805547

Source DB:  PubMed          Journal:  Ann Dermatol Venereol        ISSN: 0151-9638            Impact factor:   0.777


  1 in total

Review 1.  Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.

Authors:  S Polubothu; R H Scott; P Vabres; V A Kinsler
Journal:  Br J Dermatol       Date:  2017-09-28       Impact factor: 9.302

  1 in total

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