Restrictive dermopathy in two brothers
R. Happle, J. H. Stekhoven, B. C. Hamel, L. A. Kollee, J. G. Nijhuis, I. Anton-Lamprecht and P. M. Steijlen
Department of Dermatology, University of Nijmegen, The Netherlands.
BACKGROUND--Restrictive dermopathy is an autosomal recessive phenotype
characterized by universal tautness of skin resulting in fetal akinesia and
death during the neonatal period. The clinical signs and symptoms of this
uncommon disease are described in two brothers, and evidence is provided
that fetal biopsy specimens obtained during the 20th week of gestational
age are nondiagnostic. OBSERVATIONS--The first patient was a
growth-retarded preterm boy suffering from generalized desquamation, marked
joint contractures, and facial hypoplasia. Prominent light microscopic
findings were hyperorthokeratosis intermingled with parakeratosis and
absence of the elastic fibers in a thinned dermis. Electron microscopic
examination of the epidermis revealed a lack of keratin filaments and an
abnormal globular shape of the keratohyalin granules. The child died 4 days
after birth. A following pregnancy resulted in birth of a preterm boy who
died of the same disease within 2 hours. In the 20th week of gestational
age, fetal biopsy specimens were obtained, but light and electron
microscopy failed to reveal any abnormalities. CONCLUSIONS--Restrictive
dermopathy is a genuine skin disease resulting in fetal akinesia that
precludes a normal intrauterine development. The clinical features of this
disorder are so distinctive that an on-the-spot diagnosis can be
established. In view of the data obtained in this case, the feasibility of
prenatal diagnosis should be regarded with great caution.
