Rare Infectious Disease News

Disease Profile

Cutaneous-skeletal hypophosphatemia syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare condition that primarily affects the bones and skin. People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles. Other common features include hypophosphatemia which can be associated with bone pain, limb length discrepancies, bone deformities, and impaired mobility. CSHS occurs sporadically in people with no family history of the condition. It is caused by somatic mutations in the RAS genes. Medications such as Calcitrol and phosphate supplementation are typically prescribed to treat the signs and symptoms of the condition. However, more directed therapies are in development.[1][2]

References

  1. Ovejero D, Lim YH, Boyce AM, Gafni RI, McCarthy E, Nguyen TA, Eichenfield LF, DeKlotz CM, Guthrie LC, Tosi LL, Thornton PS, Choate KA, Collins MT. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporos Int. December 2016; 27(12):3615-3626.
  2. Lim YH, Ovejero D, Derrick KM; Yale Center for Mendelian Genomics, Collins MT, Choate KA. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. J Am Acad Dermatol. August 2016; 75(2):420-427.