Details of Disease

General Information of Disease (ID: DISOE459)

Disease Name Reticulate acropigmentation of Kitamura
Synonyms Kitamura reticulate acropigmentation; reticulate pigmentation of Kitamura; RAK; acropigmentatio reticularis; RAPK; reticulate acropigmentation of Kitamura
Definition
A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
Disease Hierarchy
DISQ205R: Hyperpigmentation of the skin
DISVVE15: Reticulate pigment disorder
DISOE459: Reticulate acropigmentation of Kitamura
Disease Identifiers
MONDO ID
MONDO_0014234
UMLS CUI
C0406811
OMIM ID
615537
MedGen ID
98363
Orphanet ID
178307
SNOMED CT ID
239133004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAM10 TTOMWSY Strong Autosomal dominant [1]
ADAM10 TTVXEGU Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAM10 OTOKUXUH Strong Autosomal dominant [1]
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References

1 Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. Hum Mol Genet. 2013 Sep 1;22(17):3524-33. doi: 10.1093/hmg/ddt207. Epub 2013 May 10.
2 Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.J Dermatol Sci. 2019 Feb;93(2):75-81. doi: 10.1016/j.jdermsci.2019.01.004. Epub 2019 Jan 15.