Kindler syndrome: a study of five Egyptian cases with evaluation of severity.
BACKGROUND
Kindler syndrome (KS) is a rare genodermatosis characterized by four major features (acral blisters, photosensitivity, poikiloderma, and cutaneous atrophy) and many associated findings. The diagnosis of KS includes clinical features, ultrastructural findings, and, recently, immunostaining and genetic studies. Varying degrees of severity of the syndrome have been described.


METHODS
Five patients with clinical features consistent with KS were included in this study. All patients were subjected to histopathologic and ultrastructural studies.


RESULTS
Cases 1 and 2 presented with severe major features, severe mucosal involvement, and many other associated findings. Case 3 presented with severe major features, but mild and limited mucosal involvement and other associated findings. Cases 4 and 5 showed mild major features and few other findings. Histopathology revealed nonspecific poikiloderma. Marked thickening of the lamina densa and splitting of the lamina lucida were the main ultrastructural findings.


CONCLUSIONS
KS may be classified into mild, moderate, and severe according to the severity of the major features and mucosal involvement. Because histopathologic and ultrastructural findings are not pathognomonic, clinical features remain the mainstay for the diagnosis of KS, and the need for immunostaining with kindlin antibody and genetic studies may be restricted to early cases with incomplete features.
Nofal
Eman
E
Departments of Dermatology, Pathology, and Histology, Faculty of Medicine, Zagazig University, Egypt. emannofal@gmail.com
Assaf
Magda
M
Elmosalamy
Khaled
K
D000293:Adolescent; D001284:Atrophy / Q000175:diagnosis; D001707:Biopsy, Needle; D001768:Blister / Q000175:diagnosis; D002648:Child; D004534:Egypt; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D010787:Photosensitivity Disorders / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D011379:Prognosis; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D012494:Sampling Studies; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology*; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D015996:Survival Rate; D013577:Syndrome