| In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome). One of the three affected females is the index case and the others are her mother and her grandmother. We performed skin biopsies on them. According to histopathological examinations skin lesions were compatible with Goltz syndrome. These cases exhibited focal dermal hypoplasia (FDH) manifestations including skin, dental and skeletal abnormalities. The affected females were seen in three generations of the same family which pointed to its X-linked dominance. ( info) |
2/72. focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations. focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. We describe a 13-year-old girl who has typical cutaneous lesions which have been present since birth; she also has some of the associated dental, nail and skeletal abnormalities, while an X-ray of the long bones osteopathia striata is visible, a feature seen in a high proportion of cases of focal dermal hypoplasia. Eighty-eight per cent of the case reports in the literature are of females and X-linked dominance is the likely mode of inheritance. It has also been proposed that the condition is lethal in homozygous males and the high frequency of miscarriages on the maternal side of this patient's family is consistent with that lethality in males. The literature, particularly with regard to pathogenesis and inheritance, is discussed. ( info) |
| A 14-year-old girl with focal dermal hypoplasia (Goltz-Gorlin-syndrome) presented with dysphagia, hoarseness, inspiratory stridor, intermittent dry cough and a 10% weight loss. endoscopy showed that these symptoms were caused by papillomatosis of the hypopharynx and the larynx. The papillomatous masses were resected subtotally by endoscopic laser treatment. Residual papillomas were left in the subglottic space but tracheotomy could be avoided. Complete clinical recovery with adequate weight gain as well as, resolution of dyspnoe and dysphagia resulted after the intervention. Histological examination did not show morphological signs of human papilloma virus as an etiological agent. ( info) |
4/72. truncus arteriosus and other lethal internal anomalies in Goltz syndrome. An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome. ( info) |
| Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome. ( info) |
| This report is concerned with the manifestations associated with focal dermal hypoplasia (Goltz syndrome) in two patients. Goltz syndrome is a rare polydysplastic syndrome. Systemic findings were similar to those previously reported in the literature and are illustrated. More detailed descriptions of the dental abnormalities are presented. The possibility of root resorption being a previously unreported part of the syndrome is hypothesised. ( info) |
| focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal origin. As a result, there are abnormalities of the eyes, skin, oral structures, musculoskeletal system and central nervous system. This article describes the case of a four-year-old female with focal dermal hypoplasia (FDH) who displayed many of the oral features associated with this syndrome. Her condition was complicated by recurrent episodes of facial cellulitis in relation to skin lesions of the face. This is an unusually severe case of FDH with previously unreported association of cutaneous anomalies and facial cellulitis. ( info) |
8/72. Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar. Aplasia cutis congenita describes localized defects of skin that may have many causes. A 6-month-old male presented with bilateral atrophic patches on his cheeks distributed along a line from the preauricular area to the angle of the mouth. They had been present since birth. He had no other abnormalities detectable on examination and no family history of similar lesions. A distinct collar of long pale hairs surrounded the lesions, especially the largest one. histology showed changes consistent with aplasia cutis congenita or focal facial dermal dysplasia. We propose our patient's lesions may be the result of failure of ectodermal fusion over embryological closure lines. This may be a distinct subgroup of atrophic facial lesions. ( info) |
| A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of focal dermal hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue. A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed. ( info) |
| Widespread linear hamartoma of vascular, elastic, adipose, and connective tissue was observed in two girls with another and opposite defect, that of failure of development of focal areas of dermis. No abnormality in number or chromosones was found. Multiple associated defects of development of mesodermal and ectodermal tissues were present. The fat tissue appeared to be associated with vascular proliferation in the papillary bodies and to crowd out the corium by downward infiltration of newly developed fat. elastic tissue fibers were demonstrable crossing between the fat cells and were prominent in the superficial dermis. There was a definite stratum of dermis dividing the superficial nevus fat and the normal subcutaneous fat. This evidence justifies the explanation of the superficial fat tumors as nevoid neoplasms rather than herniations of subcutaneous fat. ( info) |