Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.
Acro-Osteolysis ; Adolescent ; Animals ; Beak ; Craniofacial Abnormalities ; Dysostoses ; Extremities ; Fingers ; Frontal Sinus ; Humans ; Hyperostosis ; Nails, Malformed ; Nose ; Paranasal Sinuses ; Physical Examination ; Prognathism ; Pycnodysostosis ; Retention (Psychology) ; Sclerosis ; Skin ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary

Multiple myeloma is a clonal neoplastic proliferation of terminally differentiated B-lymphocytes involving the skeletal system in a multifocal fashion. Its oral manifestations are less common in the maxilla than in the mandible due to the lower amount of hemopoietic bone marrow in the maxilla. We report the case of a 50-year-old man who presented with a mass in the left maxillary alveolar region with tooth mobility. The mass had become enlarged after the teeth were extracted 15 days previously. Radiographs demonstrated multiple punched-out radiolucent lesions in the skull and pelvic region. Computed tomography images showed a soft tissue density mass in the left maxilla, eroding the floor and walls of the maxillary sinus. Although several analytical techniques were used to characterize the lesion, it was finally confirmed as multiple myeloma through immunohistochemistry.
B-Lymphocytes ; Bone Marrow ; Cytochrome P-450 CYP1A1 ; Humans ; Immunohistochemistry ; Mandible ; Maxilla ; Maxillary Sinus ; Middle Aged ; Multiple Myeloma* ; Oral Manifestations ; Pelvis ; Plasma Cells ; Plasmacytoma ; Skull ; Tooth ; Tooth Mobility