Kindler syndrome: report of a case with ultrastructural study and review of the literature.
Kindler syndrome is characterized by a generalized, progressive poikiloderma with cutaneous atrophy, congenital acral skin blistering, and photosensitivity. Since the first description, approximately 70 cases have been reported worldwide, but ultrastructural studies were performed in only five patients. In none of these patients were biopsies done at birth. In our patient ultrastructural studies were performed both of the blister at birth and of the poikilodermatous and atrophic skin at 6 years of age. Some ultrastructural features in the context of a bullous disease of the newborn that resembles epidermolysis bullosa, should alert investigators to the possibility of Kindler syndrome even in absence of the typical clinical signs.
Institute of Dermatology, University of Bologna, Italy.
A
A
Patrizi
P
P
Pauluzzi
I
I
Neri
G
G
Trevisan
L B
LB
De Giorgi
G
G
Pasquinelli
D001284:Atrophy; D001768:Blister / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010787:Photosensitivity Disorders / Q000150:complications; D011038:Rothmund-Thomson Syndrome / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*; D013577:Syndrome