| Author/Editor | Jovanović, D; Vojinović-Jovanović, S; Paravina, M; Stanojević, M; Ljubenović, M; Slavković-Jovanović, M | |
| Title | Dysplasio ectodermalis hypohidrotica | |
| Type | članek | |
| Source | Acta Dermatovenerol Alp Pannon Adriat | |
| Vol. and No. | Letnik 8, št. 1 | |
| Publication year | 1999 | |
| Volume | str. 25-7 | |
| Language | eng | |
| Abstract | Hypohidrotic ectodermal dysplasia is a rare, congenital disease. We present a child, 10-year old boy, with dysplasio ectodermalis hypohidrotica. In addition to the characteristic physical appearance, clinical features include total congenital alopecia, reduced sweating, ichthyosis, disturbed permanent dentition, marked mental retardation, and epilepsy. The son of the child's aunt (mother's sister) has the same skin lesions, without epilepsy, the father's brother suffers from epilepsy. | |
| Descriptors | ECTODERMAL DYSPLASIA HYPOHIDROSIS ALOPECIA ICHTHYOSIS DENTITION CHILD MENTAL RETARDATION EPILEPSY |