96. Jahrestagung der Deutschen Gesellschaft für Pathologie e. V ...

Results. Histomorphology of the ovary displayed nodules of luteinized
cells and multiple luteinized ovarian cysts within an edematous stroma,
typical histological findings of a pregnancy luteoma. Placental examination
revealed signs of insufficiency.
Conclusions. Pregnancy luteoma is a rare ovarian lesion which can macroscopically
be misinterpreted as malignancy. Awareness of this entity
can avoid unnecessary adnexectomy in young patients as pregnancy
luteomas regress spontaneously. Although hyperandrogenism can be
associated with IURG it is hardly probable that in the present case fetal
hypotrophy was due to pregnancy luteoma because the level of secreted
androgens was not high enough to cause manifest hyperandrogenism.
Instead IUGR in our case is more likely attributable to placental insufficiency
and/or beta thalassemia major.
SO-053
Infantile digital fibromatosis (IDF) – A case report and review of
the literature
U . Titze1 , R . Rödl2 , G . Köhler1 1University Hospital Münster, Gerhard-Domagk-Institute for Pathology,
Münster, 2University Hospital Münster, Department of General and Tumor
Orthopedics, Münster
Aims. We report on a 7 months old male infant who received excisionbiopsy
of a rapidly growing dermal tumor from the 2nd toe of the right
side.
Methods. Histological, immunohistological and ultrastructural examination
revealed typical findings of an infantile digital fibromatosis
(WHO: inclusion body fibromatosis).
Results. Infantile digital fibromatosis (IDF) is a rare, distinctive benign
fibroblastic/myofibroblastic tumor of infancy typically arising in the digits
of the hands or feet. Characteristic morphological findings in the
proliferating spindled cells are characteristic rounded eosinophilic paranuclear
inclusions.
Conclusions. Etiology of IDF remains uncertain. Despite of its benign
behavior, local recurrence was seen in up to 60% of cases after surgical
therapy. Local installations of corticosteroids do not reduce the size of
these lesions. Current management of IDF recommends avoiding surgical
intervention, as spontaneous involution is the rule.
SO-054
Male fetus with ectrodactyly ectodermal dysplasia clefting (EEC)
syndrome
F . Fronhoffs1 , S . Detering2 , S . Gerlach1 , C . Berg3 , M . Born4 , A .M . Müller5 1 2 University Bonn Medical Center, Institute of Pathology, Bonn, University
Bonn Medical Center, Institute of Pathology, Bonn, 3University Clinic of Cologne,
Department of Prenatal Medicine and Ultrasound, Köln, 4University Bonn Medical Center, Institute of Radiology, Bonn, 5University Bonn, Department
of Pediatric Pathology, Bonn
Aims. Characteristics of the ectrodactyly ectodermal dysplasia clefting
(EEC) syndrome, first described by Rüdiger et al in 1970, are ectrodactyly,
dysplasia of skin, its adnexal structures and/or teeth as well as orofacial
clefts. Its exact prevalence is unknown. Until now, about 300 cases
have been reported in literature. In more than 90% of all cases, a missense
mutation in the gene TP63 can be detected.
Methods. 33-year-old mother, gravida 1, para 1. Proof of bilateral complete
cleft of lip and palate and ectrodactyly of both feet and hands and
tentative sonographic diagnosis of complex cloacal persistence and malformation.
Confirmation of EEC-syndrome by genetic testing. Feticide
in 24th+4 week of gestation.
Results. Male fetus, appropriate for gestational age, with bilateral complete
cleft of lip and palate accompanied by deformation of the nasal apex.
Ectrodactyly of both feet and hands. Right hand with five metacarpals (I,
III–V regular, II shortened) and agenesis of phalanges II and III. At the
left hand only a rudimentary anlage of digitus II but regularly formed
digitus I and III–V. Right foot with five metacarpals but shortened metacarpal
II. Left foot with five regularly shaped metacarpal bones, but only
four phalanges (I and III–V), i.e. missing second toe. Time-adequate development
of the nails. Histologically, in the skin biopsy only very few
perspiratory and sebaceous glands. Very scarce scalp hair. Additionally,
a megacystis with pseudodiverticulum and dilatated and sidled ureters.
Conclusions. This fetus presented classic findings of the EEC syndrome.
Because of the additional urogenital anomalies the diagnosis was expanded
to ectrodactyly ectodermal dysplasia syndrome with urinary tract
pathology (EECUT).
SO-055
Femur fibula ulna (FFU) complex
A .M . Müller1 , S . Detering2 , U . Gembruch3 1 2 University Bonn, Department of Pediatric Pathology, Bonn, University
Bonn Medical Center, Institute of Pathology, Bonn, 3University Bonn Medical
Center, Dept . of Prenatal Medicine and Obstetrics, Bonn
Aims. Femur fibula ulna (FFU) complex is a sporadic, non-lethal malformation
characterized by typical unilateral combination of defects of the
femur and fibula and contralateral defect of the ulna.
Methods. We present a fetus of 23 weeks of gestation of consanguine parents.
Results. Macroscopically the fetus showed a short collar, hypertelorism,
slightly down sloping palpebral fissures, short, flat nose, small lips and
high arched palate and dysmorphic ear concha. In comparison to the
right side, left sided upper and lower leg were significantly shortened, the
foot appeared as clubfoot. Furthermore, in comparison to the left side,
the right forearm was shortened, the right hand displaying four fingers
and an aplasia of the thumb.
Conclusions. Etiology of the sporadically occurring FFU complex is unknown.
Up to now there are no signs a paternal age effect or an association
with consanguinity. Neither could chromosomal studies reveal any
abnormalities. Furthermore there is no evidence for an infectious or teratogenic
cause. Children show normal mental development and normal
life expectancy. As – dependent on the number of involved malformed
limbs – the FFU complex is grouped in four groups (I–IV) this case can
be assigned to type II.
SO-056
Fetal manifestation of the Peters’ plus syndrome associated with
lenticular ectopia and occipital meningocele in one of the cases
K . Schoner1 , J . Kohlhase2 , J . Steinhard3 , R . Bald4 , A . Schwan5 , P . Wieacker6 ,
H . Rehder1 1 2 Philipps University Marburg, Institute of Pathology, Marburg, Praxis of
Human Genetics, Freiburg, 3Department of Obstetrics, Münster, 4Clinic of
Gynecology, Leverkusen, 5Division of Human Genetics, Dortmund, 6Institute of Human Genetics, Münster
Aims. Fetal pathology aims to recognize syndrome specific patterns of
malformations and dysmorphic features for goal directed mutation analyses,
genetic counselling of the parents and early prenatal molecular
diagnoses in consecutive pregnancies. Here we report on four fetuses
with Peters’ plus syndrome from two distinct families.
Methods. We performed fetal autopsies after prenatal ultrasound diagnoses
of malformations and termination of pregnancy and carried out
molecular genetic investigations on fetal and parental DNA.
Results. Four fetuses of 16 to 22 gestational weeks presented with multiple
malformations and dysmorphic signs in addition to Peters’ anomaly of
the eyes. The latter comprised central sclerocornea, absence of the posterior
corneal stroma, and a variable degree of iris and lenticular attachments
to the central posterior cornea in association with microphthal-
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