Focal dermal hypoplasia syndrome (Goltz syndrome): the first dental case report.

The first dental case report of a patient with focal dermal hypoplasia syndrome (FDHS) is presented. A review of signs and symptoms of FDHS is presented along with newly reported oral findings. This patient apparently is the first person with FDHS to have an absent sternum and the fifteenth person reported with confirmed osteopathia striata. Carious lesions can be difficult to restore in FDHS due to a severe enamel hypoplasia and large pulp horns associated with this syndrome. Orofacial swellings in FDHS can be either odontogenic in origin or related to an infected skin lesion as presented in this case report. Focal dermal hypoplasia syndrome (FDHS), also known as Goltz syndrome, is a rare congenital mesoectodermal disorder which was first described in 1962. I This syndrome is characterized by cutaneous defects consisting of thinning of the skin, herniations of adipose tissue in the form of yellowish papules and abnormal skin pigmentations. Patients with FDHS also may present with skeletal, dental, ocular, hair, and nail anomalies. 2-6 The purpose of this report is to: (1) present the first case report of FDHS in the dental literature; (2) review histopathology of the dermal lesions; (3) document the oral manifestations of FDHS in the literature; and (4) present new oral findings associated with this syndrome. Literature Review In 1983 Hall4 conducted a review of the literature and documented 125 reported cases of FDHS in the United States, Europe, Japan, and Mexico. Although FDHS generally has been considered incompatible with survival of the male fetus, 3 12% (15/125) of Hall’s reported cases were living males. Some familial relationships have been reported, yet the etiology and transmission methods still are unknown. In 1970 Goltz suggested that FDHS is an inherited disease since 5 of 33 reported cases of FDHS had relatives with anomalies associated with the syndrome. 2 The most favored genetic hypothesis is that FDHS is caused by an X-linked dominant gene of variable expressivity with a pronounced lethality in males. 2,3,6,7-t° Alternately, an X-linked autosomal translocation or environmental teratogen might be responsible. 11 To date, karyotype examinations have provided no indication of chromosome alterations. 4,12 The first case reports in the literature of what appear to be FDHS were reported by Jessner in 1921 and 1928.13,14 The first patient, however, who was histologically confirmed to have what is now known as FDHS was reported by Lieberman in 193525 He described a 14-year-old female with hypoplasia of the teeth, wart-like lesions on the maxillary mucosa and anal orifice, papillomas on the gingiva, generalized eruptions of macular, annular, and linear areas of cutaneous atrophy, telangiectasia, and pigmentation of the skin. The patterns of cutaneous atrophy can be reticular, cribriform, punctate, or linear in shape, with reddish to tan pigmentations or areas of hypopigmentation, t,2,t4 Microscopic evaluation of these skin lesions revealed normal epidermis with varying areas of partial to complete replacement of the connective tissue in the dermis by adipose tissue. Lieberman called this finding "lipomatosis" of the cutis25 In 1941 Cole et al. 16 reported a case of a 26-yearold female whose clinical and histologic presentation was consistent with FDHS. This patient exhibited microdontia and hypoplasia of the upper right molars and premolars, syndactyly of several toes and fingers, and a missing toe with an aplastic metatarsal bone. The patient’s skin lesions were consistent with FDHS both histologically and clinically. Histologic PEDIATRIC DENTISTRY: September 1986/Vol. 8 No. 3 239 evaluation of patients with FDHS reveals a hypoplastic dermis with thin, sparse collagen bundles and complete absence of the elastic fibers with vascular hyperplasia and ectasia,which clinically produce telangiectactic atrophy. The dermis exhibits abundant quantities of adipose tissue which herniates and produces yellowish and brown papules, nodules, and plaques of the skin. Several authors have questioned whether adipose tissue near the epidermis is the result of the overgrowth of fat or the underdevelopment of collagen. Either or both of these could result from the profound mesodermal or ectodermal dysplasia which these patients manifest in a variety of ways.' In 1978 Happle suggested that the migration of 2 populations of dermal cells might explain the linear streaking of the hypoplastic areas of skin. According to the Lyon hypothesis, only 1 X-chromosome is active in any mammalian cell. Since this is a matter of chance in each cell, 2 populations of dermal cells could arise, resulting in pigmented areas being mixed with normal areas. Osteopathia striata is a recent documented finding which may be a diagnostic feature of FDHS. This radiographic presentation, unique to this syndrome, consists of fine linear areas of dense bone arranged parallel to the long axes of bones originating at articular surfaces and extending for short distances into the diaphyses.-' This finding first was reported by Larregue et al. in 1972 who found a longitudinal striation in the metaphysis of long bones in 9 of 11 patients. This finding has been confirmed since by several authors, and in 1979 Knockaert and Dequeker described in the literature the fourteenth known case of osteopathia striata. They stressed the importance of a radiological survey of the skeleton for differential diagnosis of FDHS and related syndromes. This morphologically variable presentation also may be explained by the Lyon hypothesis. ' In 1983 Hall noted 34 of his 125 cases presented with oral manifestations. The most commonly reported oral manifestations enumerated by Hall are dysplasia of teeth, papillomas, enamel defects with caries, oligodontia and malocclusion with irregular spacing, microdontia, gingival hypertrophy, high arched palate, hypoplasia of the mandible, defect in the alveolar ridge, notching of incisors, and median cleft of tongue. In addition to these findings, early loss of teeth,----high frenum attachment,-midline deviation,and ectopic eruption also have been reported.