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GTR Home > Conditions/Phenotypes > Hypopigmentation-punctate palmoplantar keratoderma syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Synonyms
Cole disease; GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1, ENPP1
    Summary: ectonucleotide pyrophosphatase/phosphodiesterase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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