Title: Cutaneous, Cranial, skeletal and dental defects in patients with Goltz syndrome
Abstract:
Background: The diagnostic process in patients manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured diagnostic process.
Material and Methods: Patients born with variable skin lesions associated with major cranial, dental and skeletal malformation complexes have been enrolled in this study. Distinctive craniofacial dysmorphic features associated with alopecia ranging between sparse hair to alopecia totalis. Cleft palate, delayed dentition, and severe dental abnormalities ranging between hypodontia to hypodontia associated with enormous dental dysplasia. Skin hypoplasia and multiple papillomas were evident around the mouth and mostly bilateral but asymmetrical in the upper and the lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patient’s microcephaly and variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities syndactyly, polydactyly and split-hand/foot (ectrodactyly) defects.
Results: All patients manifested a constellation of abnormalities with various intensities ranging between alopecia, hypodontia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. 3D reconstruction CT scan showed massive demineralization of the cranium associated with severely defective dentition. Spine 3D reconstruction CT scan showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid causing tremendous frailty of the mastoid bone. 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with rudimentary atlas and persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene chromosome Xp11 .
Conclusion: Existence of the major and minor clinical manifestations in all our patients and the positive family history of male stillbirths, skin markings,multiple papillomas, alopecia, severe mal-dentition and variable hand and feet deformities were in favor of focal dermal hypoplasia. We added novel cranial and axial data by means of 3D reconstruction CT scan, which clearly showed the connection between defective ossification of the cranium, cervico-thoracic spine synchondroses, poor dentition and early frailty of the skull in patients with Goltz syndrome. This is the first comprehensive study of the cranio-skeletal malformation complex in children and adults with (GS).
