Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided.

Follow-up CT findings of recurrent familial gigantiform cementoma of a female child.

Familial gigantiform cementoma (FGC) is a rare autosomal dominant, benign fibro-cemento-osseous lesion of the jaws that can cause severe facial deformity. True FGC with familial history is extremely rare and there has been no literature regarding the radiological follow-up of FGC. We report a case of recurrent FGC in an Asian female child who has been under our observation for 6 years since she was 15 months old. After repeated recurrences and subsequent surgeries, the growth of the tumor had seemed to plateau on recent follow-up CT images. The transition from an enhancing soft tissue lesion to a homogeneous bony lesion on CT may indicate decreased growth potential of FGC.

Congenital epulis of the jaw: a series of five cases and review of literature.

This article describes five cases of congenital epulis, a rare and benign swelling in the mouth of a newborn, which is not widely known. We present five cases: four cases presented as single pedunculated nodules of the gingiva and in one case two nodules were present. Of all, 50% were located at the maxilla. Excision was performed in four of the five cases and in one case, spontaneous regression was awaited. No recurrence was reported. The characteristic features of congenital epulis are a pedunculated, flesh-pink coloured tumour with a predominant occurrence on the anterior maxillary alveolar ridge in a female newborn. Although the aetiology is unknown, most authors suggest a mesenchymal, rather than an odontogenic, origin. Endogenous hormonal factors might influence growth prenatally. Histological findings include granular cells with eosinophilic cytoplasm and small, eccentric nuclei. Despite the fact that the lesion can be a striking sight, spontaneous regression is possible and can be awaited. Indications for non-radical excision under local anaesthesia are severe upper airway obstruction and interference with feeding technique. In conclusion, we provide clinical and histological information about congenital epulis, so that this entity will be more easily recognised and relevant information given to parents.

Congenital dental disease of horses.

Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

Granular cell lesions in head and neck: a clinicopathological study.

Twenty-five cases of granular cell lesions in the region of the head and neck are presented. The adult form (18 cases) was more frequent in women, and the most frequent sites were the tongue, the skin, and subcutaneous tissues, followed by the lip and buccal mucosa. One lesion occurred in the larynx. The congenital forms (7 cases) all occurred in female infants and involved the mucosa overlying either the anterior ridge of the maxilla or the mandible. Immunohistochemical studies revealed positive staining for S100 protein in all the granular cell tumors of the adult but in none of the congenital granular cell epulides. Embryonic antigen was present in the cells of all the congenital cases and in three-quarters of the adult cases. The significance of the histological and immunohistochemical findings is discussed. We conclude that the congenital and adult lesions are similar morphologically but are not necessarily of similar histogenesis. The findings with respect to S100 protein favor a neural (Schwann cell) origin of the adult granular cell tumor, but not the congenital form.

Congenital alveolar rhabdomyosarcoma with multiple skin metastases. Report of a case.

A rare case of congenital alveolar rhabdomyosarcoma revealing multiple skin metastases in a female neonate is reported. At birth, a ping-pong ball-sized tumor on the neck and a tumor the size of a little finger end on the chin were noticed. Then, multiple skin tumors over the whole body occurred soon after birth. A biopsied small skin tumor was at first interpreted as being compatible with metastatic congenital neuroblastoma. However, immunohistochemical and electron microscopic findings revealed positive immunoreactivity for myoglobin in a few tumor cells and the presence of a few rhabdomyoblasts among poorly differentiated tumor cells, resulting in a final diagnosis of alveolar rhabdomyosarcoma. Therefore, it should be emphasized that in cases of round cell tumor, immunohistochemical and ultrastructural studies are imperative in order to identify the tumor and differentiate it from other forms, including rhabdomyoblastoma, neuroblastoma, Ewing's sarcoma, malignant lymphoma, and small cell carcinoma.

Lymphagiomas of the alveolar ridges in neonates.

Blue-domed, fluid-filled lesions on the alveolar ridges of neonates were noted in 3.7% of all normal black newborns examined. None were found in whites. On microscopic examination of eight such lesions, the diagnosis of lymphangioma was made. These lymphangiomas should not be confused with Epstein's pearls, Bohn's nodules, eruption cysts, or mucous retention phenomena. The natural history of such lymphagiomas is unknown. However, spontaneous regression was noted in several cases.

Congenital granular-cell myoblastoma.

The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis.