Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.

Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal intelligence. It is caused by variants in FAM111A (NM_001942519.1). In this review, we reported the first Chinese patients, a pair of monozygotic twins, with genetically confirmed KCS type 2 with over 20 years follow-up. We summarized the clinical features of 14 previously reported and genetically confirmed KCS type 2 patients; our twin patients exhibited a unique spinal manifestation which could be an important age-dependent feature of KCS type 2. In this review, over 60% KCS type 2 patients had dental problem and over 80% suffered from refractive errors or structural eye abnormalities. Therefore, early dental, ophthalmological, and orthopedic assessments are warranted for KCS type 2 patients. Micro-orchidism, previously reported in KCS type 2 patients, was also detected in our patients. The possibility of subfertility should be considered in male KCS type 2 patients. A multidisciplinary management approach for this rare syndrome is recommended.

[Caffey disease. A case report]. / Enfermedad de caffey. Reporte de un caso.

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 with hyperphosphatemia: a case report and review of the literature.

This is a report of a 6-year-old girl with the rare syndrome of hyperostosis with hyperphosphatemia. Only eight cases have been previously reported. The main features of this syndrome are repeated attacks of bone pain and swelling, the radiologic finding of periosteal reaction with cortical hyperostosis, and the laboratory finding of increased serum phosphorus level with normal serum calcium and parathyroid hormone levels. The purpose of this article is to review the clinical picture, laboratory and radiological findings, and the differential diagnosis.