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J Craniofac Surg ; 31(5): e471-e475, 2020.
Article En | MEDLINE | ID: mdl-32310878

Kenny-Caffey Syndrome Type 2 (KCS2) is a rare genetic disorder characterized by short stature, skeletal dysplasia, primary hypoparathyroidism, and delayed closure of the anterior fontanelle. Patients with KCS2 typically require multidisciplinary management due to numerous craniofacial and skeletal anomalies. Craniosynostosis, however, has not yet been identified in a patient with KCS2 to the best of our knowledge. We present the first case of craniosynostosis in the setting of KCS2 and provide a comprehensive analysis of the associated craniofacial findings to date. The authors will describe the craniofacial features specific to our patient and review the characteristic morphological features in a manner relevant to early recognition and focused evaluation.

Dwarfism/diagnostic imaging , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hypocalcemia/diagnostic imaging , Skull/diagnostic imaging , Humans , Hypoparathyroidism , Infant , Magnetic Resonance Imaging , Male , Osteochondrodysplasias , Tomography, X-Ray Computed
Yonsei Med J ; 60(5): 484-486, 2019 May.
Article En | MEDLINE | ID: mdl-31016912

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.

Hyperostosis, Cortical, Congenital/pathology , Adult , Fatal Outcome , Female , Gestational Age , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Infant, Newborn , Male , Pregnancy , Republic of Korea
Acta Biomed ; 90(4): 587-594, 2019 12 23.
Article En | MEDLINE | ID: mdl-31910191

We describe radiographic, contrast-enhanced MDCT and MRI findings with pathologic correlations of an unusual recurrence of tumoral calcinosis, also called Teutschlander disease. The disease was silent in the first decade of life, when it appeared with elbows recurring lesions, until the seventh decade of life, when a left hip active growth lesion developed. A review about tumoral calcinosis pathogenesis, clinical course and imaging differential diagnosis is reported. (

Calcinosis/diagnostic imaging , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperphosphatemia/diagnostic imaging , Magnetic Resonance Imaging , Multidetector Computed Tomography , Humans , Male , Middle Aged , Recurrence
Dentomaxillofac Radiol ; 47(8): 20180171, 2018 12.
Article En | MEDLINE | ID: mdl-30028190

This report presents two cases of Worth syndrome involving the mandible which were identified as an incidental finding on radiologic evaluation. Both patients were females who presented with enlarged mandibles. Radiologic evaluation revealed multiple bilateral mandibular enostoses, widened and thickened inferior cortical border of the mandible, with no other major clinical finding on examination. One of the patients received orthognathic surgery and healed uneventfully with no post-surgical complications. In this report, we reviewed possible differential diagnoses to this syndrome to facilitate identification among general dentists and oral and maxillofacial radiologists.

Hyperostosis, Cortical, Congenital , Osteopetrosis , Osteosclerosis , Adult , Female , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Incidental Findings , Mandible/diagnostic imaging , Middle Aged , Osteopetrosis/diagnostic imaging , Osteosclerosis/diagnostic imaging
Osteoporos Int ; 29(9): 1987-2009, 2018 Sep.
Article En | MEDLINE | ID: mdl-29923062

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease.

Calcinosis/genetics , Fibroblast Growth Factors/genetics , Hyperostosis, Cortical, Congenital/genetics , Hyperphosphatemia/genetics , Mutation , Adolescent , Adult , Bone Density/genetics , Calcinosis/diagnostic imaging , Calcinosis/pathology , Echocardiography , Female , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/pathology , Hyperphosphatemia/diagnostic imaging , Hyperphosphatemia/pathology , Male , Pedigree , Prospective Studies , Radiography , Retrospective Studies , Tomography, X-Ray Computed
Spec Care Dentist ; 38(5): 324-327, 2018 Sep.
Article En | MEDLINE | ID: mdl-29956834

BACKGROUND: Caffey's disease is a rare syndrome, usually self-limiting, affecting newborn and young infants. On radiological exams, the cortical hyperostosis is always present, associated or not to soft tissue swelling. Other radiographic presentations are described as lytic areas. AIM: This article has the objective to relate computed tomography (CT) findings of Caffey's disease, where lytic lesion on mandibular angle was the principal radiological manifestation. METHODS AND RESULTS: Three-dimensional reconstructions were performed to demonstrate the initial aspect and the healing process. CONCLUSION: This report shows unusual radiological characteristics of Caffey's disease on CT and its progressive resolution.

Hyperostosis, Cortical, Congenital/diagnostic imaging , Child , Diagnosis, Differential , Humans , Imaging, Three-Dimensional , Male , Mandible , Radiography, Panoramic , Tomography, X-Ray Computed
World Neurosurg ; 115: 225-228, 2018 Jul.
Article En | MEDLINE | ID: mdl-29709743

BACKGROUND: Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. To the author's knowledge, this is the second case report of a family with neurologic involvement associated with this condition along with its surgical treatment. The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical treatment for this condition reported in the literature. Therefore we aim to make a contribution to the identification of a standard and consistently successful surgical management. CASE DESCRIPTION: Two patients, mother (Patient 1) and daughter (Patient 2), were diagnosed with Worth syndrome. Both presented with the typical facial characteristics described for ADEH. Interestingly, Patient 1 presented the novel mutation in the LRP5 gene that is associated with different conditions involving increased bone density. Although neurologic symptoms are infrequent in ADEH, both referred chronic headache, nausea, and vomiting. Neuroimaging showed an increased cranial bone density and Chiari I malformation. The patients underwent a midline suboccipital craniectomy with excision of the posterior arch of C1 and duroplasty. However, due to a symptomatic recurrence 5 years after surgery, Patient 1 was reoperated on. We extended the craniectomy and also carried out a C2 laminectomy. CONCLUSION: After surgical interventions, patients' neurologic symptoms were successfully resolved. This report shows that posterior fossa decompression including duroplasty may be a valid treatment option in case of neurologic involvement.

Arnold-Chiari Malformation/diagnostic imaging , Arnold-Chiari Malformation/surgery , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/surgery , Osteopetrosis/diagnostic imaging , Osteopetrosis/surgery , Adolescent , Adult , Arnold-Chiari Malformation/complications , Craniotomy/methods , Female , Humans , Hyperostosis, Cortical, Congenital/complications , Osteopetrosis/complications , Treatment Outcome
Am J Kidney Dis ; 72(3): 457-461, 2018 09.
Article En | MEDLINE | ID: mdl-29548779

Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia (phosphate, 9.0 mg/dL) and normocalcemia (calcium, 4.8 mg/dL), with normal kidney function and fractional excretion of phosphate of 3%. Parathyroid hormone was suppressed (15 pg/mL), associated with a low-normal 25-hydroxyvitamin D (26 ng/mL) concentration but high 1,25-dihydroxyvitamin D concentration (92 pg/mL). Serum intact FGF-23 (fibroblast growth factor 23) was undetectable. Genetic analysis revealed tumoral calcinosis due to a compound heterozygous mutation in FGF23, c.201G>C (p.Gln67His) and c.466C>T (p.Gln156*). Due to lack of other treatment options and because the patient was facing severe vascular complications, we initiated a daily hemodialysis program even in the setting of normal kidney function. This unusual therapeutic option successful controlled hyperphosphatemia and reduced metastatic tumoral lesions. This is a report of a new mutation in FGF23 in which dialysis was an effective treatment option for tumoral calcinosis with normal kidney function.

Calcinosis/genetics , Calcinosis/therapy , Fibroblast Growth Factors/genetics , Hyperostosis, Cortical, Congenital/genetics , Hyperostosis, Cortical, Congenital/therapy , Hyperphosphatemia/genetics , Hyperphosphatemia/therapy , Kidney/physiology , Mutation/genetics , Renal Dialysis , Adult , Calcinosis/diagnostic imaging , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperphosphatemia/diagnostic imaging , Male , Renal Dialysis/methods , Treatment Outcome
S Afr Med J ; 106(6 Suppl 1): S98-9, 2016 May 25.
Article En | MEDLINE | ID: mdl-27245539

Infantile cortical hyperostosis - Caffey-Silverman disease - is a familial disorder manifesting in the late fetal period or infancy with excessive periosteal bone formation. Signs and symptoms regress spontaneously within months and result in expanded, deformed bones. The paucity of clinical symptoms may lead to delayed investigation and confusion of the remaining bone changes with those in other conditions. This problem is exemplified by two siblings misdiagnosed as osteogenesis imperfecta. The diagnosis of Caffey-Silverman disease was confirmed by molecular analysis showing the specific COL1A1 mutation in the patients and their clinically unaffected mother. Reduced penetrance rather than autosomal recessive inheritance explains multiple affected siblings born to healthy parents.

Collagen Type I/genetics , Hyperostosis, Cortical, Congenital/diagnosis , Siblings , Child, Preschool , Diagnostic Errors , Female , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/genetics , Infant , Mutation , Osteogenesis Imperfecta/diagnosis
Bone ; 60: 246-51, 2014 Mar.
Article En | MEDLINE | ID: mdl-24389367

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Importantly, it remains to be established as to how a point-mutation in type I collagen leads to a cascade of inflammatory events and spatio-temporally limited hyperostotic bone lesions, and how structural and inflammatory components contribute to the different organ-specific manifestations in Caffey disease. In this review we attempt to shed light on these questions based on the current understanding of other mutations in type I collagen, their role in perturbing collagen biogenesis, and consequent effects on cell-cell and cell-matrix interactions.

Hyperostosis, Cortical, Congenital/pathology , Amino Acid Sequence , Collagen Type I/chemistry , Collagen Type I/genetics , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/physiopathology , Models, Biological , Molecular Sequence Data , Mutation/genetics , Radiography
Am J Hum Genet ; 92(6): 990-5, 2013 Jun 06.
Article En | MEDLINE | ID: mdl-23684011

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with OCS and found that all of them had heterozygous mutations in FAM111A. One mutation was identified in four unrelated individuals with KCS, and another one was identified in two unrelated individuals with OCS; all occurred de novo. Thus, OCS and KCS are allelic disorders of different severity. FAM111A codes for a 611 amino acid protein with homology to trypsin-like peptidases. Although FAM111A has been found to bind to the large T-antigen of SV40 and restrict viral replication, its native function is unknown. Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis. FAM111A appears to be crucial to a pathway that governs parathyroid hormone production, calcium homeostasis, and skeletal development and growth.

Abnormalities, Multiple/genetics , Bone Diseases, Developmental/genetics , Craniofacial Abnormalities/genetics , Dwarfism/genetics , Hyperostosis, Cortical, Congenital/genetics , Hypocalcemia/genetics , Hypoparathyroidism/genetics , Receptors, Virus/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/mortality , Abnormalities, Multiple/pathology , Adolescent , Adult , Bone Diseases, Developmental/mortality , Bone Diseases, Developmental/pathology , Child , Craniofacial Abnormalities/mortality , Craniofacial Abnormalities/pathology , Dwarfism/diagnostic imaging , Dwarfism/mortality , Genetic Association Studies , Heterozygote , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/mortality , Hypocalcemia/diagnostic imaging , Hypocalcemia/mortality , Hypoparathyroidism/diagnostic imaging , Hypoparathyroidism/mortality , Infant , Infant, Newborn , Male , Mutation, Missense , Parathyroid Hormone/deficiency , Radiography
Acta Ortop Mex ; 27(2): 114-8, 2013.
Article Es | MEDLINE | ID: mdl-24701763

Infantile cortical hyperostosis or Caffey-Silverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and females. We report herein a very rare disease, little known in world literature, in order to disseminate within the orthopedic setting the musculoskeletal alterations we found in Caffey-Silverman disease. We report a seven year-old female patient diagnosed with Caffey-Silverman disease, with presence of its different manifestations that include swelling of the right forearm (indurated edema without phlogosis), pain, irritability with a chronicity involving a course of years. She is undergoing primary treatment consisting of observation and symptom relief. We know that it is a disorder with an unknown etiology. We also know there is hypoxia, local necrosis and periosteal reaction; however, the triggers of these changes are still a mystery. There are several hypotheses, but none of them has been proven. Some reports of familial occurrence suggest a possible hereditary factor. The natural self-limitation of this disease has made it difficult to establish the type of heredity; it is likely a trait with an autosomal dominant transmission with variable penetrance. A hereditary defect of periosteal arterioles has been propose as well as factors such as diet, an allergic base and an immune origin. Attempts have been made to isolate viruses and bacteria, but they have failed. Serologic infection tests have been negative. Caffey syndrome is little known in world literature, as there are only a few articles on it in the PUBMED, EMBASE, MEDIGRAPHIC, LILACS and ARTEMISA data bases. Being aware of this rare disease allows for early suspicion and a better workup and contributes to orthopedic knowledge as its musculoskeletal alterations are reported. Despite its low prevalence, it should be part of the differential diagnoses in children with soft tissue swelling and bone abnormalities with signs of irritability and fever.

Hyperostosis, Cortical, Congenital/pathology , Biopsy , Child , Contraindications , Disease Progression , Female , Genes, Dominant , Humans , Hyperostosis, Cortical, Congenital/diagnosis , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/epidemiology , Hyperostosis, Cortical, Congenital/etiology , Incidence , Models, Biological , Phenotype , Prognosis , Radiography
Eur J Med Genet ; 55(8-9): 441-5, 2012.
Article En | MEDLINE | ID: mdl-22522175

Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome.

Abnormalities, Multiple , Dwarfism , Hyperostosis, Cortical, Congenital , Hypocalcemia , Tooth Abnormalities , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Dwarfism/diagnostic imaging , Dwarfism/genetics , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/genetics , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/genetics , Hypocalcemia/diagnostic imaging , Hypocalcemia/genetics , Phenotype , Radiography , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/genetics
Eur J Radiol ; 81(4): e565-72, 2012 Apr.
Article En | MEDLINE | ID: mdl-21726971

OBJECTIVE: Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. This study seeks to present the characteristic patterns of prenatal-onset cortical hyperostosis (PCH) with regard to the radiographic features, and tries to ascertain whether PCH is a separate entity from infantile cortical hyperostosis (ICH), known as classic Caffey Disease. MATERIALS AND METHODS: This retrospective study identified cases with PCH based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International Skeletal Dysplasia Registry between 1987 and 2009. Outcomes and clinical information were also identified from medical records. RESULTS: Based upon radiographic results, we found 20 individuals with PCH, of whom 10 neonatally survived, and 10 died. Hyperostosis of the mandible was found in 18/20, and of the skull base in 16/20 cases. Hyperostosis of the ribs was found in 17/20 cases, of the scapulae in 14/20, and of the clavicles in 4/20. Hyperostosis of the ileum was found in 11/20 cases, and of the long bones in all 20/20 cases, of which three cases had fibula sparing. No hyperostosis of the hands, feet, and spine was found. CONCLUSIONS: Our results suggest that, based upon clinical features and radiographic expression, ICH and PCH represent two separate entities, and that ICH should continue to be referred to as Caffey Disease and that PCH should be called Caffey Dysplasia. The findings of symmetrical hyperostosis of the mandible, ribs, scapulae, ilea, and long bones in any combination should suggest the diagnosis of PCH.

Hyperostosis, Cortical, Congenital/diagnostic imaging , Prenatal Diagnosis/methods , Female , Humans , Infant, Newborn , Male , Radiography , Reproducibility of Results , Sensitivity and Specificity , Ultrasonography