search

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
293 stars 51 forks source link

NTR: Lip: grooving around the lips (Mouth & throat) #7761

Closed pnrobinson closed 8 months ago

pnrobinson commented 2 years ago

New term request Lip: grooving around the lips (elthat_120822204737): Grooves

pnrobinson commented 2 years ago

Is this distinct from Lip fissure HP:0031250 ?

pnrobinson commented 2 years ago

@MickeySegal -- what disease is associated with this finding? Do you mean a circumferential groove?

MickeySegal commented 2 years ago

It sounds different. An example at https://www.ncbi.nlm.nih.gov/books/NBK100826/ "Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. "

pnrobinson commented 1 year ago

Is it this? https://pubmed.ncbi.nlm.nih.gov/36084634/ (Figure 1A)

OMIM:620107 median notching of lower lip 2/4 median notching of upper lip 1/4

MickeySegal commented 1 year ago

All I have is the abstract for that paper, but "grooving around the lips" sounds like it is parallel to the lips and notching sounds perpendicular. But it would be good to get further information from someone who knows this area.

pnrobinson commented 9 months ago

@sabrinatoro Could we discuss this term with your colleagues?

sabrinatoro commented 8 months ago

From Mary Marazita (Distinguished Professor at the University of Pittsburg, Department of Oral and Craniofacial Sciences):

The term request if for “grooving around the lips”

Query: is this a fissure in the lip? NO, a fissure in the lip would in the vermillion border. This grooving around the lips is outside the vermillion border---I have only seen this term in the context of an acquired phenotype due to sun exposure in a photophobic syndrome (eg as in the paper provided).

OVERALL: I can’t comment on whether these terms should be added to HPO since I am unfamiliar with the literature, but I can confirm my interpretations above that these terms do not overlap with our upper lip work.

MickeySegal commented 8 months ago

I tried to track down the original references and found a description that seems very confused: https://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/porphyrias/erythropoietic-protoporphyria-and-x-linked-protoporphyria "If skin protection is chronically neglected, rough, thickened, and leathery skin (lichenification) may develop, especially over the knuckles. Deep grooves may develop around the mouth (carp mouth)."

pnrobinson commented 8 months ago

@MickeySegal given that we do not have a precise description of the phenotypic feature, I think it is probably best not to add a term at this time. We can also come back to this if we get more information.