Kindler syndrome.
Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.
Sharma
Ramesh Chander
RC
Department of Dermatology, I. G. Medical College, Shimla 171001 (H.P.), India.
Mahajan
Vikram
V
Sharma
Nand Lal
NL
Sharma
Ashok K
AK
D000328:Adult; D003937:Diagnosis, Differential; D005882:Gingival Diseases / Q000150:complications; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications; D008297:Male; D010375:Pedigree; D010688:Phimosis / Q000150:complications; D011859:Radiography; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology