obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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hamartomatous proliferation containing malformed hair follicles in various stages of development #1123

Closed LOURGHI closed 7 years ago

LOURGHI commented 8 years ago

Please consider a new term for hamartomatous proliferation containing malformed hair follicles in various stages of development .

pnrobinson commented 7 years ago

I think this is referring to “panfollicular nevus", which should be the prefer label of this term.

pnrobinson commented 7 years ago

Congenital panfollicular nevus (CPN), first described in 2005, is a hamartomatous proliferation containing malformed hair follicles in various stages of development CPN is a recently described member of the larger family of benign adnexal disorders of the skin. The histologic differential diagnosis of this benign follic- ular lesion includes follicular tumors such as panfol- liculoma and trichoepithelioma and other hamartomas. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differen- tiation, like CPN; unlike CPN, it is acquired as an adult. Trichoepithelioma is a benign follicular tumor that does not show all stages of follicular differenti- ation. Nevus sebaceous of Jadassohn and folliculose- baceous cystic hamartoma show sebaceous lobules (which are small in congenital cases but still present), which were absent in this case (5) [from PMID: 26822169]

pnrobinson commented 7 years ago

Pink to salmon-colored, well-circumscribed, elliptical, hairless, bosselated, multinodular No bleeding or ulceration Not painful or pruritic Negative Darier’s sign

pnrobinson commented 7 years ago

Congenital non-melanocytic nevi (hamartomas) include epidermal nevi, connective tissue nevi, seba- ceous nevi, hair follicle nevi (trichofolliculoma), and various proliferations of other dermal and sub- cutaneous structures including smooth muscle and lipomatous hamartomas. Such growths often involve the skin of the head and neck region and are some- times associated with well-established syndromes of genodermatoses. Neoplasms with follicular differentiation include a large variety of lesions that recapitulate different parts of the hair follicle and exhibit a broad spectrum of behaviors. Numerous classifications of hair follicle proliferations proposed by various experts demon- strate limited consensus. Despite the abundance of potentially applicable terms, we report an unusual hamartomatous lesion with pilar features that does not entirely fulfill the criteria of any previously described hair follicle neoplasms [PMID: 15660657]

pnrobinson commented 7 years ago

Parent term "Nevus"

LOURGHI commented 7 years ago

I had annotated with Hamartoma as parent.

LOURGHI commented 7 years ago

to annotate congenital panfollicular nevus .