American Journal of Medical Genetics 19:665-667 (1984)
New Syndrome: Exostoses, Anetodermia, Brachydactyly
F. Mollica, S. Li Volti, and B.Guarneri
Departments of Pediatrics (F. M., S. L. V ) and Dermatology (B.G.), University of Catania, Catania, Italy
The syndrome consists of multiple exostoses, anetodermia, and type E brachydactyly .
Exostoses. One to several in each patient. Clinical onset between 5 and 33 yr. Various sizes (up to 6 cm) . These mainly involve the major tubular bones of the limbs and sternum with varying intrafamilial distribution.
Age of onset approximately 6 to 7 yr, sometimes following measles. Irregularly rounded areas of macular atrophy (2-30mm) on trunk and upper limbs (Fig. 1). Microscopic examination: markedly atrophied epidermis; massive infiltration of mastocytes in the external and middle dermis (Fig. 2).
Brachydactyly. Marked shortness of the left fourth metatarsal (Fig. 3 ) . (Ac- cording to the relatives, the brachydactyly of 11-2 was identical to that of IV-9.)
No other signs or symptoms. Family history. Origin from Grammichele (Sicily). The three anomalies are
variously combined in 10 relatives of four successive generations (Fig. 4).
The existence of these three anomalies in 10 relatives in one family cannot be coincidental. Individually all three traits can be transmitted as autosomal dominant characteristics. In some patients the presence of only one anomaly may be due to their young age (V-1, V-7, and V-8 are 7, 7, and 6 years old, respectively).
Received for publication November 21, 1983; revision received May 21, 1984.
Address reprint requests to Prof. Florindo Mollica, Clinica Pediatrica, Citta Universitaria, Viale A. Doria 6, 95125, Catania, Italy
0 1984 Alan R. Liss, Inc.
666 Mollica, Li Volti, and Guarneri
Fig. I . of some of these acquired lesions is evident: many are hyperpigmented macules.
Skin of individual IV-9 at age 33 yr. In the oblique view toward the back the papular character
Fig. 2. Skin of IV-9 showing atrophy of the epidermis and flattening of the papillary crests, edema of the papillary crest?, derma and swelling of the collagen fibers, infiltration of mastocytes in the dermis. Hematoxylin and eosin, X 120.
Fig. 3. Radiograph of the left foot of IV-9. Note severe brachydactyly of metatarsal 4 and less severe brachymetatarsy 5 . Are exostoses present?
Fig. 4 The pedigree. B, exostoses; n 0. brdchyddctyly: E 0 , anetodermia.
Apart from hereditary multiple exostoses, exostoses may be present in meta- chondromatosis [Maroteaux, 19711 and in the Langer-Giedion syndrome [Hall et al, 19741. They have never been reported in association with anetodermia. Exostoses may cause shortness of the metacarpals [Temtamy and McKusick, 19781, but there were no exostoses in the short metatarsal of IV-9. The association exostoses-aneto- dermia-brachydactyly may be a syndrome affecting tissues of mesodermal origin.
Exostoses, Anetodermia, Brachydactyly 667
Hall BD, Langer LOQ, Giedion A, Smith DW, Cohen MM, Beak RK, Bradner, M (1974): Langer- Giedion syndrome. New York: Alan R . Liss, Inc. for The National Foundation-March of Dimes. BD:OAS X(12):147-164.
Maroteaux P (1971): La metachondromatose. Z Kinderheilk 109:246-261. Temtamy SA, McKusick VA (1978): Brachydactyly as a part of syndromes. New York: Alan R . Liss,
Inc. for the National Foundation-March of Dimes, BD:OAS XIV(3):227-299.
Edited by F. Clarke Fraser and Marilyn Preus