• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.3
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• pp.555-561
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• 1998

Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA. It inherited as an autosomal recessive or dominant trait and occurs in all races. In general, hypophosphatasia can be classified in 4 subtypes which are the perinatal, infantile, childhood, adult type depending upon the age at presentation and severity. In young children with Hypophosphatasia the long bones show irregular defects, and the skull showes poor calcification. In older children with premature closure of the skull sutures there may be multiple lucent area called gyral or convolutional markings, described as resembling beaten copper, presumably resulting from increased intracranial pressure. Examination of the jaws reveals a generalized lucency of the maxilla and mandible. the cortical bone and lamina dura are thin, and the alveolar bone may be deficient. Clinical features of Hypophosphatasia include premature loss of deciduous teeth, especially incisors, hypoplasia or aplasia of root cementum, enamel hypoplasia, irregular calcification of dentin, large pulp chamber, and resorption of marginal alveolar bone and roots. Our report involves a patient with a chief complaint of early loss of both Mx. and Mn. deciduous incisors. After conducting a through clinical and radiographic examination this patient was referred to pediatrics under the suspicion of hypophosphatasia, the diagnosis proved to be correct and successful results were accomplished through a denture made to improve esthetics and function.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.1-11
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• 2023

Inborn errors of metabolism encompass a wide variety of disorders, frequently affecting bone. This review presents a comprehensive retrospect on the primary involvement of bone in inborn errors of metabolism. Primary involvement of bone in inborn errors of metabolism includes entities that primarily affect the bone marrow, mineral component or cartilage. These include lysosomal storage disorders, hypophosphatasia, and hereditary hypophosphatemic rickets. In this review, we discuss the primary involvement of bone in inborn errors of metabolism (hypophosphatasia, X-linked hypophosphatemic rickets, Gaucher disease, and mucopolysaccharidoses) along with the therapeutic agents used in clinical settings, diagnostic strategies, and general management. With the development of disease-specific targeted therapies and supportive care, more number of patients with these disorders live longer and survive into adulthood. Moreover, skeletal symptoms have become a more prominent feature of these disorders. This makes the awareness of these skeletal symptoms more important.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.141-147
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• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• Clinics in Shoulder and Elbow
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• v.12 no.1
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• pp.84-88
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• 2009

Purpose: Calcium pyrophosphate dihydrate crystal deposition disease(CPPD) is a disease of the elderly and extremely rare in young individuals. If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases, such as hemochromatosis, hyperparathyroidism, hypophosphatasia, hypomagnesemia, Wilson's disease, hypothyroidism, and gout. Materials and Methods: Therefore, in young-onset CPPD crystal deposition disease, an investigation of any predisposing metabolic conditions is warranted. Conclusion: We report a case of a young female patient who presented with idiopathic CPPD crystal deposition disease at 25 years of age.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.4
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• pp.649-653
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• 2001

The Chiari malformation is a deformation within the central nervous system which the lower brain stem and the cerebellum migrate into the foramen magnum causing herniation. In 1891, Arnold Chiari classified such symptoms into 3 categories. This case report is of a 8-year-old female with the complaint of a slight facial swelling and pain on the upper right molar during tooth brushing since 10 days before. Clinical examination showed gingival pocket formation on distal of the upper right first molar with pain and mobility of the tooth. Radiographic examination showed generalized low bone density in the upper molar area, and especially no bone support above the upper right and left first molars were noted. With a temporary diagnosis of Early-onset periodontitis, consultations with medical doctors for the possibility of an underlying systemic disease were made during periodontal treatment. 3D CT was taken with after a final diagnosis of Chiari malformation. Generalized thinning and defect of the cranial bone was noted and the foramen magnum was slightly enlarged. The occipital and maxillary bone was low in density, and the alveolar bone of maxillary posterior teeth was especially almost non-existing causing the upper right and left first molar to be floating. For this, the patient went under consultation with the department of neurosurgery and is still under observation. Periodontitis in childreren is very rare. When symptoms of periodontitis appear in a child, due to the possibility of an underlying systemic disease such as leukemia, histiocytosis X, and hypophosphatasia, proper examinations should be carried out so that the primary factor the symptoms can be treated.