Epidermolytic Hyperkeratosis - case report
An. bras. dermatol
; 90(6): 888-891, Nov.-Dec. 2015. tab, graf
Article
in En
| LILACS
| ID: lil-769522
Responsible library:
BR1.1
ABSTRACT
Abstract Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1100.000 to 1300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.
Key words
Full text:
1
Index:
LILACS
Main subject:
Hyperkeratosis, Epidermolytic
Type of study:
Diagnostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
An. bras. dermatol
Journal subject:
DERMATOLOGIA
Year:
2015
Type:
Article