Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue.

Segmental odontomaxillary dysplasia (SOD) is a developmental condition of the middle and posterior maxilla featuring dysplastic bone overgrowth, dental abnormalities and, occasionally, various homolateral cutaneous manifestations. Herein, we describe an individual with maxillary abnormality akin to SOD and associated ipsilateral segmental odontomandibular dysplasia. Also, the result of the evaluation of lesional mandibular gingival tissue for overgrowth-related gene variants is reported. An 8-year-old girl presented clinically with congenital maxillary and mandibular alveolar soft tissue enlargement in the area of the premolars. A panoramic radiograph revealed abnormal trabeculation essentially similar to SOD in the maxilla and mandible with congenitally missing maxillary and mandibular first and second premolars and mandibular canines. Diagnostic mandibular bone biopsy was performed and lesional mandibular gingival hyperplastic tissue was obtained for variant analysis of somatic overgrowth genes PIK3CA, AKT1, AKT3, GNAQ, GNA11, MTOR, PIK3R2. Cone beam computerized tomography (CBCT) disclosed osseous abnormalities on the left side of the maxilla and mandible and very mild osseous expansion in the mandible. Histologically, abnormal bone exhibiting prominent reversal lines was present and associated with fibrocollagenous tissue. Genomic DNA analysis disclosed PIK3CAc.1571G>A; pArg524Lys which was seen at a low mosaic level in the blood, indicating a post-zygotic change. Although this case may be a unique disorder, by sharing features with SOD, one can suggest the possibility of mandibular involvement in SOD. The presence of a PIK3CA variant may support the hypothesis that these segmental disorders could be part of the PIK3CA-related overgrowth spectrum.

Corrección quirúrgica en una adolescente con hiperplasia gingival hereditaria / Surgical correction in an adolescent with hereditary gingival hyperplasia

Se describe el caso clínico de una adolescente que fue atendida en la consulta de Periodoncia del Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba, por presentar agrandamiento de las encías desde hacía más de un año, lo que le dificultaba la masticación de los alimentos y, por tanto, le producía trastornos digestivos transitorios, además de afectar su estética. Luego de realizados los exámenes físico y complementarios, se estableció el diagnóstico presuntivo de hiperplasia gingival hereditaria o familiar y se indicó el tratamiento, que incluyó 3 fases: la inicial, la correctiva quirúrgica y la de soporte periodontal. En la fase quirúrgica se tomó una muestra hística cuyo análisis anatomopatológico confirmó el diagnóstico presuntivo inicial

The case report of an adolescent that was assisted in the Periodontics Service of Dr Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba is described. He presented enlargement of the gums for more than a year, which made mastication of foods difficult and therefore, transitory digestive dysfunctions took place, besides affecting her aesthetics. After the physical and complementary tests, the presumptive diagnosis of hereditary or family gingival hyperplasia was established and the treatment was indicated into 3 phases: initial phase, surgical corrective phase and that of periodontal support. In the surgical phase a tissue sample was taken which pathologic analysis confirmed the initial presumptive diagnosis

Congenital generalized terminal hypertrichosis with gingival hyperplasia.

Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment.

Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia.

Julia Pastrana (1834-1860) has gained immortality as one of the most extreme cases of generalized hypertrichosis upon record. When she was exhibited for money in the United States and Europe during the years 1855-1860, people thronged to see her, and she was several times described in the medical press of the day. After Julia Pastrana's death in childbirth, her corpse was embalmed in a very life-like manner, and exhibited all over Europe for several decades. Later, the mummy was believed to be lost, but in 1990 it was discovered at the Oslo Forensic Institute. Some writers have included Julia Pastrana among the cases of congenital hypertrichosis languinosa. However, a microscopic examination of hair samples from the mummy shows that her hairy growth is unmistakably terminal in character, and we propose that she instead was an example of congenital, generalized hypertrichosis terminalis with associated gingival hyperplasia. While many earlier writers have asserted that Julia Pastrana's dentition was abnormal, a radiographic examination of the mummy has shown that she had a complete permanent dentition.

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

We report a neonate, born at term, with microcephaly, a hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, and low set ears, who died at 86 minutes of age. Radiographs showed diffuse sclerosis of the bones.

Congenital PCB poisoning: a reevaluation.

A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes, as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

[Congenital idiopathic gingival hyperplasia observed in a 6-year-old child]. / Une hyperplasie gingivale idiopathique congénitale observée chez un enfant de 6 ans.

Congenital diffuse gingival hyperplasia is a rare entity. A case is presented for the first time in Senegal, the etiology of the affection being undetermined. The various pathogenic hypotheses for this lesion include: diffuse gingival fibroma, congenital, hereditary or idiopathic gingival fibromatosis, familial gingival elephantiasis and idiopathic or hereditary gingival hyperplasia.