Epidermolytic Hyperkeratosis - case report
An. bras. dermatol
; 90(6): 888-891, Nov.-Dec. 2015. tab, graf
Article
in English
| 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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Hyperkeratosis, Epidermolytic
Type of study:
Diagnostic study
/
Risk factors
/
Screening study
Limits:
Child, preschool
/
Female
/
Humans
Language:
English
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2015
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital Heliopólis/BR