Comments (3)
OMIM includes 3 groups for classification:
PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).1
Footnotes
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See Classification of Palmoplantar Keratoderma section of EPPK1, https://www.omim.org/entry/144200. ↩
from humandiseaseontology.
@lschriml & @sbello,, should we revise the DO classification to include "diffuse" and "focal" groups, and drop the ''nonepidermolytic palmoplantar keratoderma' (DOID:0050428l; NEPPK) grouping?
A few additional diseases to add:
- PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE - https://omim.org/entry/615598 - a diffuse type
- KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL - https://www.omim.org/entry/148730 - a focal type
- PALMOPLANTAR KERATODERMA AND WOOLLY HAIR - https://www.omim.org/entry/616099 - a striate type
from humandiseaseontology.
We could keep the NEPPK grouping, under a "diffuse" grouping. It would only include the new 'KRT1-related NEPPK' and 'Bothnian type palmoplantar keratoderma'.
I think 'Naxos disease' should probably be reclassified since the skin phenotypes can be variable1.
Footnotes
-
Description, https://omim.org/entry/601214. ↩
from humandiseaseontology.
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