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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Skin biopsy: keratohyaline granules in keratinocytes on EM (Lab: pathology: biopsies & morphology) #9308

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Skin biopsy: keratohyaline granules in keratinocytes on EM (elthat_130429040141): Electron microscopy UMLS: 1866035

pnrobinson commented 1 year ago

@MickeySegal

This does not appear to be an abnormal finding, see https://www.ncbi.nlm.nih.gov/books/NBK537049/

MickeySegal commented 1 year ago

You are right.

The correct name should be large keratohyaline granules: https://www.omim.org/entry/601952 "Electron microscopy disclosed numerous large keratohyaline granules in superficial keratinocytes. [Vahlquist et al. (1997)] suggested that the condition is due to a genetic defect in the formation of keratohyaline granules."

The granules are also deformed in another disease; I'll file a new term request.

pnrobinson commented 1 year ago

@MickeySegal

adding as HP:0034927 Large keratohyaline granules def: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.