medigraphic.com
SPANISH

Revista Cubana de Genética Comunitaria

ISSN 2070-8718 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2014, Number 2

<< Back Next >>

Rev Cub Gen 2014; 8 (2)

Disorders of keratinization. Apropos of 2 cases

Fleites RM, Moredo RE, Pastrana FF, Lantigua CA
Full text How to cite this article

Language: Spanish
References: 10
Page: 44-47
PDF size: 693.42 Kb.


Key words:

genodermatoses, ichthyosis, erythroderma, erythrokeratodermia.

ABSTRACT

Genodermatosis is a heterogeneous group of diseases of the skin, that share their genetic conditioning. Two cases of genodermatosis by keratinization disorders are presented. Male patient, 1 year old with bullous congenital ichthyosiform erythroderma and a female patient of 18 years of age diagnosed with Erythrokeratodermia variabilis. In both cases, histopathological examination is performed. Both are considered rare disease with autosomal dominant inheritance, chronic course and impact on quality of life of patients.


REFERENCES

  1. Akiyama M. Harlequin ichthyosis and other autosomal congenital ichthyosis: the underlying genetic defects and pathomechanism. J Dermatol Sci 2006; 42:83-9

  2. Smack DP, et al: Keratin and keratinization. J Am Acad Dermatol 1994; 30:85

  3. DiGiovanna JJ, et al: Clinical heterogeneity in epidermolitic hyperkeratosis. Arch Dermatol 1994; 130:1026

  4. Reddy BS, et al: Generalized epidermolytic hyperkeratosis in a child born to a parent with systematized epidermolytic linear epidermal nevus. Int J Dermatol 1997; 36:198

  5. Richard G. Molecular genetics of the ichthyoses. Am J Med Genet C Semin Med Genet 2004; 131:32-44.

  6. Akiyama M. Harlequin ichthyosis and other autosomal congenital ichthyosis: the underlying genetic defects and pathomechanism. J Dermatol Sci 2006; 42:83-9.

  7. Gray LC, et al: Progressive symmetric erythrokeratodermia. J Am Acad Dermatol 1996; 34:858

  8. Ishida- Yamamoto A, et al: The molecular pathology of symmetric erythrokeratoderma. J Am Hum Genet 1997; 61:581.

  9. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006; 16:49-59

  10. Shwayder T. Disorders of keratinizaton: diagnosis and Management. Am J Clin Dermatol 2004; 5:17-29.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Cub Gen . 2014;8