[Segmental type 1 manifestation of Darier disease. An example of cutaneous mosaicism]. / Segmentale Typ-1-Manifestation des Morbus Darier. Ein kutanes Mosaik.
Hautarzt
; 63(10): 759-62, 2012 Oct.
Article
in De
| MEDLINE
| ID: mdl-23052099
ABSTRACT
A 45-year old man presented with red-brown hyperkeratotic papules that were distributed in an unilateral segmental fashion on the right thorax. Histopathological examination revealed acanthosis and, in particular, acantholysis and dyskeratosis in the basal and suprabasal epidermal layers. Based on the clinical and histopathologic findings we diagnosed a type 1 segmental Darier disease. Darier disease is an autosomal dominant disorder that is caused by mutations in the ATP2A2 gene and is characterized by dysfunctional adhesion between neighboring keratinocytes. The type 1 segmental manifestation reflects a de novo postzygotic somatic mutation in the heterozygous state and as a rule can be found in all autosomal dominantly inherited genodermatoses.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Disorders
/
Sarcoplasmic Reticulum Calcium-Transporting ATPases
/
Darier Disease
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
De
Journal:
Hautarzt
Year:
2012
Document type:
Article