[Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?].
A 15-year-old boy had suffered burning of both palms and all fingers during his 2nd year of life. Epitheliazation of the lesions did not occur. In his 6th year, erythema, desquamation and erosion-like alterations appeared spontaneously on the soles of both feet and on the plantar sides of the toes. These alterations were similar to those on the hands. Histologically the lesion on the right sole was covered with a very thin horny layer and thin epidermis. The cells of the epidermis had clear cytoplasm and probably derived from the ductal epithelium of the sweat glands. Under the atrophic epidermis, granulation tissue consisting of lymphocytes, plasma cells, histiocytes, and a few polynuclear cells and eosinophils was seen. The following symptoms were still present in the boy: dys- and hypotrichosis, oligodontia, enamel and dentin hypoplasia, cleft palate and uvula, concomitants strabismus (left eye), and cryptorchidism. Transplantation of the patient's skin from the right thigh to the lesion on the right sole was tried. The authors postulate a previously unreported form of ecto-mesodermal dysplasia in this case.
Klinik für Stomatopathologie, Stomatologischen Fakultät, Universität Sarajevo.
T
T
Salamon
D
D
Sućur
A
A
Nikulin
O
O
Lazović-Tepavac
B
B
Topić
I
I
Huml
D
D
Dojcinov
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D003744:Dental Enamel Hypoplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003805:Dentin Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology; D013285:Strabismus / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities
Palmoplantare Epidermisatrophie mit Hypokeratose, Dys- und Hypotrichose, Hypodontie, Zahnschmelz- und Dentinhypoplasie, isolierter Gaumenspalte mit gespaltener Uvula, Strabismus, Kryptorchismus und anderen Anomalien--eine unbeschriebene Ektomesodermaldysplasie?