New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

[pnrobinson]

https://www.ncbi.nlm.nih.gov/pubmed/28061825

This can only be annotated after we have created terms see https://github.com/obophenotype/human-phenotype-ontology/issues/4620 and the previous two issues.

[nicolevasilevsky]

variant validator is down at the moment, need to come back to this one

[nicolevasilevsky]

@pnrobinson the paper reports the patient has 'absence of seborrheic glands' - are seborrheic glands the same as sebaceous glands? If yes, I will create a ticket for absent sebaceous gland.

[nicolevasilevsky]

@pnrobinson a draft of this phenopacket is done, please review when you have a chance (thanks to @LCCarmody for helping!)

[pnrobinson]

@nicolevasilevsky @LCCarmody did you check the file in? Would it be Blano-Kelly-... ? I cannot find a CDH3 case report

[pnrobinson]

I think that 'absence of seborrheic glands' is a misnomer. sebaceous glands are "oil-producing-glands". seborrheic essentially means that the oil is flowing ("-rheic" is from the Greek word for flow -- the Spanish word rio [river] comes from a Latin word that derives from this Greek word). Therefore, if you have seborrheic dermatitis, you have red, scaly, greasy, itchy, and inflamed skin [related somehow to increased oil production]. Therefore, the authors almost certainly mean absence of sebaceous glands

[nicolevasilevsky]

@pnrobinson you were right, I had not checked the file in (my bad!) but I checked it in now, thanks for reviewing

[nicolevasilevsky]

@pnrobinson thanks for the nice clarification about the absent sebaceous glands, I'll create a ticket in HPO

[pnrobinson]

@nicolevasilevsky @LCCarmody

• In this case, the initial diagnosis was rejected: First suspected diagnosis, based on the referral information, was ABCA4–related maculopathy + Keratosis Follicularis Spinulosa Decalvans. However, after clinical examination and further evaluation of the reports, the suspected diagnosis was HJMD. -- Therefore, the gene is not ABCA4 but CDH3
• I will revise

[pnrobinson]

I am removing the phenotype absent hair (we have the phenotype sparse scalp hair which is correct). Also, I am adding Negative phenotypes for this -- No dental, hands or feet anomalies were noticed (Fig. 1d and e); when asked, the patient denied needing special dental care. -- if the authors mention it, they were thinking of some differential diagnosis where patients have these features.

[pnrobinson]

@nicolevasilevsky @LCCarmody I have check in a revised version, thanks! I think this was a particularly hard one. Let's continue! Please close after you have seen this.

[nicolevasilevsky]

Thanks for the revisions @pnrobinson!

I added Absent sebaceous glands to HPO (HP_0410400). I will leave this open for now, as I will add the new phenotype to this phenopacket.

[nicolevasilevsky]

I think I have to wait for the next release to add this new term

[pnrobinson]

done