Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings.
We report a 21 year-old Turkish male with acrogeric Ehlers-Danlos syndrome type IV, a rare autosomal dominant disorder. In addition to the usual findings, the patient also had glaucoma and some unusual skeletal features including impressio digitalis in the skull, prognathism of the lower jaw and maxiller hypoplasia, not previously described as part of acrogeric Ehlers-Danlos syndrome type IV. These features expand the phenotypic spectrum of acrogeric Ehlers-Danlos syndrome type IV.
Akar
Ahmet
A
Dept. of Dermatology, G lhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey. aakar@gata.edu.tr
G l
Davut
D
Erdem
Zeyir
Z
Sarathchandra
Padmini
P
Tysoe
Carolyn
C
Pope
Mike
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000169:Acrodermatitis / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D001707:Biopsy, Needle; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis*; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000150:complications / Q000175:diagnosis*; D005901:Glaucoma / Q000150:complications / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D018570:Risk Assessment